1.Research on dynamic monitoring of drug consumption based on seasonal Mann-Kendall trend test
Ziheng YU ; Chen CHEN ; Xiangyu YANG ; Lulu LI ; Shaohui ZHANG
China Pharmacy 2026;37(3):377-382
OBJECTIVE To investigate a dynamic monitoring of drug consumption (DMDC) model based on the seasonal Mann-Kendall trend test, aiming to provide scientific evidence for the efficient and macroscopic monitoring of drug use. METHODS A monitoring list of key outpatient drugs was established based on the top 20% of drugs ranked by sales volume in the outpatient pharmacy in October 2024. A DMDC model based on the Mann-Kendall trend test was constructed using the monthly usage data of key outpatient drugs from November 2021 to October 2024, aiming to eliminate the impact of seasonal fluctuations and analyze the temporal trends in drug consumption. Taking mucolytic expectorants, triazole derivatives for dermatophytosis, and single-agent hydroxymethylglutaryl coenzyme A (HMG-CoA) reductase inhibitors as examples, the monitoring effectiveness of the DMDC model was demonstrated, and its performance was compared with that achieved by the traditional sequential growth rate ranking method. RESULTS A total of 215 drug varieties were included in the monitoring list, and DMDC models were successfully established for all of them. Among these, 119 showed a significant increasing trend (P<0.05, S′>0). The model successfully monitored the monthly consumption of mucolytic expectorants, triazole derivatives for dermatophytosis, and single- agent HMG-CoA reductase inhibitors. The precision and recall rates of the DMDC model for identifying abnormal drug use were 60.7% and 85.0%, respectively, both significantly higher than those of the sequential growth rate ranking method (8.3% and 15.0%, respectively) (χ2=20.114, P<0.001; χ2=19.600, P<0.001). CONCLUSIONS DMDC model based on the seasonal Mann-Kendall trend test can effectively identify long-term trends in drug consumption, eliminate seasonal interference, enhance monitoring accuracy and management efficiency, and is suitable for the dynamic monitoring of drug consumption.
2.Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province
Zhiyang GUAN ; Dina CHEN ; Zeyan ZHONG ; Zhiyong WU ; Guoxing ZHONG ; Shaohui HUANG ; Jianhong CHEN
Chinese Journal of Medical Genetics 2025;42(2):129-136
Objective:To analyze the hematological characteristics of patients with three common deletional β-thalassemias (β-thal) and concomitant α-thal in Huizhou, Guangdong province.Methods:A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thal, respectively. The hematological characteristics of patients with the deletional β-thal were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].Results:① A total of 384 cases of the three common deletional β-thal were identified, including 184 cases of Chinese Gγ + ( Aγδβ) 0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Taiwanese, for a total detection rate of 28.76%. ② Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A 2 levels in patients with Chinese Gγ + ( Aγδβ) 0, the levels of Hb A 2 in patients with the other two deletional β-thal were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A 2 and Hb F values among the groups of the three common deletional β-thal heterozygotes ( P<0.05). ③ According to the type of gene variation, 180 patients with Chinese Gγ + ( Aγδβ) 0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ + ( Aγδβ) 0/β N (149), -α/αα, Chinese Gγ + ( Aγδβ) 0/β N (14), and --/αα, Chinese Gγ + ( Aγδβ) 0/β N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β N (150), -α/αα, SEA-HPFH/β N (12), and --/αα, SEA-HPFH/β N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ + ( Aγδβ) 0 combined with α 0-thal group were significantly lower than those of the Chinese Gγ + ( Aγδβ) 0 combined with α + -thal group and the control group ( P<0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α 0-thal group were significantly lower than those of the SEA-HPFH combined with α + -thal group and the control group ( P<0.05). Conclusion:The above research results can not only enhance the ability of clinicians to identify deletional β-thal and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thal prevention and control programme and the development of prenatal and postnatal care.
3.Research on Strategies for the International Communication of Traditional Chinese Medicine Sports and Health Culture from the Perspective of Cultural Confidence
Jixu CHEN ; Jian ZHENG ; Shaohui MA
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(5):1283-1289
Traditional Chinese medicine(TCM)sports and health culture is an important part of traditional Chinese culture,with profound historical origins and cultural heritage.Based on the connotation of TCM sports and health culture and with reference to Braddock communication mode,this paper analyzed the problems existing in the international communication of TCM sports and health culture,and put forward the integrated and multi-dimensional strategies for the international communication of TCM sports and health culture from the perspective of cultural confidence in seven aspects,including strengthening talent training,building communication platforms,establishing communication systems,combining theory with practice,enriching communication media,innovating communication content and attaching importance to communication effects.The discussion aims to provide new ideas for the international dissemination of TCM sports and health culture,and to promote the international communication of TCM sports and health culture.
4.Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province.
Zhiyang GUAN ; Dina CHEN ; Zeyan ZHONG ; Zhiyong WU ; Guoxing ZHONG ; Shaohui HUANG ; Jianhong CHEN
Chinese Journal of Medical Genetics 2025;42(2):129-136
OBJECTIVE:
To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province.
METHODS:
A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively. The hematological characteristics of patients with the deletional β-thalassemia were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)].
RESULTS:
A total of 384 cases of the three common deletional β-thalassemia were identified, including 184 cases of Chinese Gγ+(Aγδβ)0, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Chinese Taiwanese, for a total detection rate of 28.76%. Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A2 levels in patients with Chinese Gγ+(Aγδβ)0, the levels of Hb A2 in patients with the other two deletional β-thalassemia were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A2 and Hb F values among the groups of the three common deletional β-thalassemia heterozygotes (P < 0.05). According to the type of gene variation, 180 patients with Chinese Gγ+(Aγδβ)0 heterozygotes were divided into three groups, including αα/αα, Chinese Gγ+(Aγδβ)0/βN (149), -α/αα, Chinese Gγ+(Aγδβ)0/βN (14), and --/αα, Chinese Gγ+(Aγδβ)0/βN (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/βN (150), -α/αα, SEA-HPFH/βN (12), and --/αα, SEA-HPFH/βN (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ+(Aγδβ)0 combined with α0-thalassemia group were significantly lower than those of the Chinese Gγ+(Aγδβ)0 combined with α+-thalassemia group and the control group (P < 0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α0-thalassemia group were significantly lower than those of the SEA-HPFH combined with α+-thalassemia group and the control group (P < 0.05).
CONCLUSION
The above research results can not only enhance the ability of clinicians to identify deletional β-thalassemia and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thalassemia prevention and control programme and the development of prenatal and postnatal care.
Humans
;
beta-Thalassemia/complications*
;
alpha-Thalassemia/complications*
;
Female
;
China
;
Male
;
Adult
;
Fetal Hemoglobin/genetics*
;
Adolescent
;
Young Adult
5.Role and mechanism of resveratrol in delaying exercise-induced fatigue
Jun CHEN ; Shaohui JIA ; Chenggen GUO ; Xinxuan XUE ; Kunwei DONG
Chinese Journal of Tissue Engineering Research 2025;29(29):6285-6294
BACKGROUND:Resveratrol is a naturally occurring polyphenolic compound in plants,recognized for its anti-inflammatory,antioxidant,and antiproliferative properties.Its role in preventing and treating various chronic diseases has been extensively documented.Recent evidence suggests that resveratrol may help delay exercise-induced fatigue,although the underlying mechanisms remain to be systematically elucidated.OBJECTIVE:To explore the possible role and mechanism of resveratrol in delaying exercise-induced fatigue,based on the mechanism of exercise-induced fatigue,in order to provide a theoretical basis for the research and application of resveratrol in the field of sports nutrition.METHODS:Chinese and English search terms were"resveratrol,exercise-induced fatigue,oxidative stress,inflammation,energy substance,muscle injury,mitochondrial quality,neurotransmitter."CNKI,WanFang Data,and PubMed were searched for relevant research literature published from January,1992 to August 2024.A total of 73 core related articles were obtained according to inclusion and exclusion criteria.RESULTS AND CONCLUSION:(1)Resveratrol is a naturally occurring polyphenolic compound commonly found in plants such as grape skins,berries,and peanuts.It exhibits multiple biological activities,including antioxidant,anti-aging,anticancer,and anti-inflammatory properties.Resveratrol shows potential for preventing and treating various chronic diseases and is also thought to delay the onset of exercise-induced fatigue.(2)Exercise-induced fatigue is a non-pathological fatigue phenomenon with a complex mechanism.It is related to peripheral mechanisms such as the depletion of energy substrates,the accumulation of metabolic by-products,inflammation,and oxidative stress,as well as central mechanisms,including protective inhibition by the central nervous system and neurotransmitter imbalances.(3)Resveratrol activates the kelch-like epichlorohydrin-associated protein 1/nuclear factor erythroid 2-related factor 2 pathway,upregulating antioxidant-related genes such as catalase and superoxide dismutase while downregulating genes such as malondialdehyde and 4-hydroxy-2-nonenal,ultimately reducing oxidative stress.Resveratrol also activates silent information regulator 1,inhibits the nuclear factor-kappaB and nucleotide-binding oligomerization domain-like receptor thermal protein domain associated protein 3 inflammasome pathways,and downregulates pro-inflammatory cytokines such as tumor necrosis factor-α,interleukin-6,and interleukin-1β,alleviating inflammation.Additionally,resveratrol increases short-chain fatty acid production by the gut microbiota,elevates the lactate/pyruvate ratio in the liver to promote gluconeogenesis,and enhances fatty acid oxidation,thereby improving energy substrate utilization.Furthermore,through silent information regulator 1/peroxisome proliferator-activated receptor-y coactivator-1α/nuclear respiratory factor 1 activation,resveratrol enhances mitochondrial biogenesis in skeletal muscle,promotes mitochondrial fusion and fission for optimal dynamics,and activates mitophagy,improving mitochondrial quality.It also diminishes plasma tryptophan levels,decreases excessive serotonin secretion in the brain,increases dopamine release,and reduces glutamate toxicity,helping regulate neurotransmitter imbalances.Moreover,resveratrol lowers plasma lactate and ammonia levels,promoting metabolic by-product clearance,thereby delaying the onset of exercise-induced fatigue.(4)While current evidence indicates that resveratrol is effective in delaying exercise-induced fatigue,the optimal dose,timing,and duration of supplementation remain uncertain.Moreover,the interactions between resveratrol and other supplements,such as caffeine and vitamins,remain underexplored.Thus,future research should focus on optimizing supplementation strategies for resveratrol.
6.The predictive value of preoperative CALLY index for the short-term prognosis in patients undergoing radical gastrectomy
Zhengjie GAO ; Tao MENG ; Qiao ZHANG ; Binghe CHEN ; Dong HOU ; Shaohui ZHU
Tianjin Medical Journal 2025;53(9):967-971
Objective To explore the predictive value of the preoperative C-reactive protein-albumin-lymphocyte ratio(CALLY index)for short-term prognosis in patients undergoing radical gastrectomy.Methods The clinical data of 228 gastric cancer patients who underwent radical gastrectomy were retrospectively analyzed.Based on follow-up results,patients were divided into the good prognosis group(n=205)and the poor prognosis group(n=23).The differences in clinical characteristics and laboratory test results between the two groups were compared.Cox proportional hazards regression model was used to analyze the impact of CALLY index on poor prognosis in patients.The receiver operating characteristic(ROC)curve was used to determine the clinical value and optimal cutoff value of CALLY index in predicting poor prognosis of patients.Kaplan-Meier method was used to analyze the difference in disease-free survival(DFS)between patients with different CALLY index levels.Results After a follow-up of 3 to 53 months(median follow-up of 36 months),23 patients developed poor prognosis(including 3 deaths and 20 recurrences or metastases).Compared with the good prognosis group,tumors in the poor prognosis group were larger,the proportion of poorly differentiated tumors was higher and white blood cell count(WBC),neutrophil count(NEU),C-reactive protein(CRP)were higher,and lymphocyte(LYM),albumin(ALB),prealbumin,total cholesterol(TC)and CALLY indexl were lower.Multivariate Cox regression analysis showed that the elevated CALLY index(HR=0.306,95%CI:0.102-0.921,P=0.035)was an independent protective factor for poor prognosis,while larger tumors and poorly differentiated tumors were independent risk factors for poor prognosis.ROC curve analysis showed that the area under the curve for predicting poor prognosis in gastric cancer patients undergoing radical gastrectomy was 0.862(95%CI:0.810-0.904),with a sensitivity of 95.65%,specificity of 69.76%,and an optimal cutoff value of 2.21.Kaplan-Meier analysis showed that patients with a CALLY index>2.21 had a longer disease-free survival than those with a CALLY index≤2.21(mean DFS:48 months vs.42 months,Log-rank χ2=4.123,P=0.042).Conclusion The preoperative CALLY index is a simple,effective and easily accessible predictor for predicting short-term prognosis in patients undergoing radical gastrectomy.A high CALLY index indicates a better prognosis of patient.
7.Analysis of Pathogenic Gene Carriers and Prenatal Diagnosis Results in 13472 Cases of Spinal Muscular Atrophy
Zeyan ZHONG ; Guoxing ZHONG ; Dina CHEN ; Zhiyong WU ; Zhiyang GUAN ; Shaohui HUANG ; Kunxiang YANG ; Jianhong CHEN
Journal of Practical Obstetrics and Gynecology 2025;41(8):688-692
Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99%,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.
8.The predictive value of preoperative CALLY index for the short-term prognosis in patients undergoing radical gastrectomy
Zhengjie GAO ; Tao MENG ; Qiao ZHANG ; Binghe CHEN ; Dong HOU ; Shaohui ZHU
Tianjin Medical Journal 2025;53(9):967-971
Objective To explore the predictive value of the preoperative C-reactive protein-albumin-lymphocyte ratio(CALLY index)for short-term prognosis in patients undergoing radical gastrectomy.Methods The clinical data of 228 gastric cancer patients who underwent radical gastrectomy were retrospectively analyzed.Based on follow-up results,patients were divided into the good prognosis group(n=205)and the poor prognosis group(n=23).The differences in clinical characteristics and laboratory test results between the two groups were compared.Cox proportional hazards regression model was used to analyze the impact of CALLY index on poor prognosis in patients.The receiver operating characteristic(ROC)curve was used to determine the clinical value and optimal cutoff value of CALLY index in predicting poor prognosis of patients.Kaplan-Meier method was used to analyze the difference in disease-free survival(DFS)between patients with different CALLY index levels.Results After a follow-up of 3 to 53 months(median follow-up of 36 months),23 patients developed poor prognosis(including 3 deaths and 20 recurrences or metastases).Compared with the good prognosis group,tumors in the poor prognosis group were larger,the proportion of poorly differentiated tumors was higher and white blood cell count(WBC),neutrophil count(NEU),C-reactive protein(CRP)were higher,and lymphocyte(LYM),albumin(ALB),prealbumin,total cholesterol(TC)and CALLY indexl were lower.Multivariate Cox regression analysis showed that the elevated CALLY index(HR=0.306,95%CI:0.102-0.921,P=0.035)was an independent protective factor for poor prognosis,while larger tumors and poorly differentiated tumors were independent risk factors for poor prognosis.ROC curve analysis showed that the area under the curve for predicting poor prognosis in gastric cancer patients undergoing radical gastrectomy was 0.862(95%CI:0.810-0.904),with a sensitivity of 95.65%,specificity of 69.76%,and an optimal cutoff value of 2.21.Kaplan-Meier analysis showed that patients with a CALLY index>2.21 had a longer disease-free survival than those with a CALLY index≤2.21(mean DFS:48 months vs.42 months,Log-rank χ2=4.123,P=0.042).Conclusion The preoperative CALLY index is a simple,effective and easily accessible predictor for predicting short-term prognosis in patients undergoing radical gastrectomy.A high CALLY index indicates a better prognosis of patient.
9.Role and mechanism of resveratrol in delaying exercise-induced fatigue
Jun CHEN ; Shaohui JIA ; Chenggen GUO ; Xinxuan XUE ; Kunwei DONG
Chinese Journal of Tissue Engineering Research 2025;29(29):6285-6294
BACKGROUND:Resveratrol is a naturally occurring polyphenolic compound in plants,recognized for its anti-inflammatory,antioxidant,and antiproliferative properties.Its role in preventing and treating various chronic diseases has been extensively documented.Recent evidence suggests that resveratrol may help delay exercise-induced fatigue,although the underlying mechanisms remain to be systematically elucidated.OBJECTIVE:To explore the possible role and mechanism of resveratrol in delaying exercise-induced fatigue,based on the mechanism of exercise-induced fatigue,in order to provide a theoretical basis for the research and application of resveratrol in the field of sports nutrition.METHODS:Chinese and English search terms were"resveratrol,exercise-induced fatigue,oxidative stress,inflammation,energy substance,muscle injury,mitochondrial quality,neurotransmitter."CNKI,WanFang Data,and PubMed were searched for relevant research literature published from January,1992 to August 2024.A total of 73 core related articles were obtained according to inclusion and exclusion criteria.RESULTS AND CONCLUSION:(1)Resveratrol is a naturally occurring polyphenolic compound commonly found in plants such as grape skins,berries,and peanuts.It exhibits multiple biological activities,including antioxidant,anti-aging,anticancer,and anti-inflammatory properties.Resveratrol shows potential for preventing and treating various chronic diseases and is also thought to delay the onset of exercise-induced fatigue.(2)Exercise-induced fatigue is a non-pathological fatigue phenomenon with a complex mechanism.It is related to peripheral mechanisms such as the depletion of energy substrates,the accumulation of metabolic by-products,inflammation,and oxidative stress,as well as central mechanisms,including protective inhibition by the central nervous system and neurotransmitter imbalances.(3)Resveratrol activates the kelch-like epichlorohydrin-associated protein 1/nuclear factor erythroid 2-related factor 2 pathway,upregulating antioxidant-related genes such as catalase and superoxide dismutase while downregulating genes such as malondialdehyde and 4-hydroxy-2-nonenal,ultimately reducing oxidative stress.Resveratrol also activates silent information regulator 1,inhibits the nuclear factor-kappaB and nucleotide-binding oligomerization domain-like receptor thermal protein domain associated protein 3 inflammasome pathways,and downregulates pro-inflammatory cytokines such as tumor necrosis factor-α,interleukin-6,and interleukin-1β,alleviating inflammation.Additionally,resveratrol increases short-chain fatty acid production by the gut microbiota,elevates the lactate/pyruvate ratio in the liver to promote gluconeogenesis,and enhances fatty acid oxidation,thereby improving energy substrate utilization.Furthermore,through silent information regulator 1/peroxisome proliferator-activated receptor-y coactivator-1α/nuclear respiratory factor 1 activation,resveratrol enhances mitochondrial biogenesis in skeletal muscle,promotes mitochondrial fusion and fission for optimal dynamics,and activates mitophagy,improving mitochondrial quality.It also diminishes plasma tryptophan levels,decreases excessive serotonin secretion in the brain,increases dopamine release,and reduces glutamate toxicity,helping regulate neurotransmitter imbalances.Moreover,resveratrol lowers plasma lactate and ammonia levels,promoting metabolic by-product clearance,thereby delaying the onset of exercise-induced fatigue.(4)While current evidence indicates that resveratrol is effective in delaying exercise-induced fatigue,the optimal dose,timing,and duration of supplementation remain uncertain.Moreover,the interactions between resveratrol and other supplements,such as caffeine and vitamins,remain underexplored.Thus,future research should focus on optimizing supplementation strategies for resveratrol.
10.Analysis of Pathogenic Gene Carriers and Prenatal Diagnosis Results in 13472 Cases of Spinal Muscular Atrophy
Zeyan ZHONG ; Guoxing ZHONG ; Dina CHEN ; Zhiyong WU ; Zhiyang GUAN ; Shaohui HUANG ; Kunxiang YANG ; Jianhong CHEN
Journal of Practical Obstetrics and Gynecology 2025;41(8):688-692
Objective:To explore the carrier rate and the genetic distribution characteristics of spinal muscular atrophy(SMA)pathogenic genes in Huizhou,and analyze the prenatal diagnosis results of fetuses from couples who are both carriers,in order to provide scientific reference for genetic counseling and prenatal diagnosis.Meth-ods:13472 peripheral blood samples were collected for the survival motor neuron gene 1(SMN1)testing at Huizhou First Maternal and Child Health Care Hospital from August 2021 to October 2024.And prenatal diagnosis was conducted on high-risk pregnant couple who were both carriers of SMA pathogenic genes.Fluorescence quantitative polymerase chain reaction(PCR)was used to detect the copy numbers of SMN1 exon 7 and 8(E7,E8),screen for SMA pathogenic gene carriers,and calculate the carrier rate.For samples identified as homozy-gous deletions and prenatal diagnosis samples,further validation of copy number variations in E7 and E8 of the SMN1 gene was performed using multiplex ligation-dependent probe amplification(MLPA)technology.Results:Among the 13472 screened individuals,268 carriers of the SMA pathogenic gene were detected,with a carrier rate of approximately 1/50(1.99%,268/13472).Among them,there were 251 cases of E7 and E8 heterozygous dele-tion,3 cases of E7 heterozygous deletion and E8 homozygous deletion,and 14 cases of pure E7 heterozygous de-letion;2 cases of E7 and E8 homozygous deletion were detected.One case had obvious motor developmental dis-orders in the child,and the other case had a normal phenotype in the pregnant woman.Among 20 couples who were both SMA carriers,17 pregnant women underwent prenatal diagnosis.The results showed that 4 cases were normal E7 and E8 types,7 cases were E7 and E8 heterozygous deletion types,all of whom continued to conceive.6 cases were E7 and E8 homozygous deletion type,namely SMA patients,and the pregnancy was terminated by pregnant women.Conclusions:This study reports the carrier rate of SMA pathogenic genes in the population of Huizhou for the first time,and the combined use of MLPA for prenatal diagnosis of high-risk couples can effective-ly prevent the birth of SMA children,which is of great significance for the prevention and control of SMA birth de-fects.

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