1.Sequence Analysis and Confirmation of an HLA Null Allele Generated by a Base Insertion.
Zhan-Rou QUAN ; Yan-Ping ZHONG ; Liu-Mei HE ; Bing-Na YANG ; Hong-Yan ZOU
Journal of Experimental Hematology 2025;33(1):276-279
OBJECTIVE:
To confirm the sequence of a null allele HLA-C*08:127N produced by a base insertion.
METHODS:
PCR sequence-specific oligonucleotide probe (SSOP) and PCR sequence-based typing (SBT) were used for HLA routine detection, which discovered abnormal sequence maps of HLA-C in one acute myeloid leukemia patient. The sequence of the above loci was confirmed by next generation sequencing (NGS) technology.
RESULTS:
The SSOP typing result showed that HLA-C locus was C*03:04, C*08:01, while the sequence was suspected to be inserted or deleted in exon 3 by SBT, and finally confirmed by NGS as C*03:04, C*08:127N.
CONCLUSION
When base insertion produces HLA null alleles, SBT analysis software cannot provide correct results, but NGS technology can more intuitively obtain accurate HLA typing results.
Humans
;
Alleles
;
High-Throughput Nucleotide Sequencing
;
HLA-C Antigens/genetics*
;
Histocompatibility Testing
;
Polymerase Chain Reaction
;
Leukemia, Myeloid, Acute/genetics*
;
Sequence Analysis, DNA
;
Mutagenesis, Insertional
;
Exons
2.Association between index-ring finger length ratio and polymorphisms of 6 phalange-bone development related genes
Meng-Yi YANG ; Shi-Bo NIU ; Jing ZHANG ; Liang PENG ; Jie DANG ; Zhan-Bing MA ; Hong LU ; Zheng-Hao HUO
Acta Anatomica Sinica 2024;55(2):181-187
Objective To investigate the association of 13 single nucleotide polymorphism(SNP)sites in 6 phalange-bone development related genes[fibroblast growth factor receptor 2(FGFR2),indian hedgehog signaling molecule(IHH),Msh homeobox 1(MSX1),Runx family transcription factor 2(RUNX2),SRY-box transcription factor 9(SOX9),Wnt family member 5A(WNT5A)]with human index-ring finger length ratio(2D∶4D).Methods Digital cameras were used to take frontal photographs of the hands of 731 college students(358 males and 373 females)in Ningxia,and image analysis software was used to mark anatomical points and measure finger lengths of index(2th)and ring(4th);genotyping of 13 SNP sites(rs1047057,rs755793,rs41258305,rs3731881,rs3100776,rs12532,rs3821949,rs45585135,rs3749863,rs1042667,rs12601701,rs1829556,rs3732750)for 6 genes by multiplex PCR;One-Way ANOVA or independent sample t-test indirectly assessed the association between 2D∶4D and 13 SNP sites.Results Both left and right hand 2D∶4D were significantly higher in females than males in Ningxia college students(all P<0.01);no statistically significant differences in genotype and allele frequencies of the 13 SNP sites among different sexes(all P>0.05);among different sexes,male left hand 2D∶4D was significantly associated with the genotype of SOX9 gene rs12601701 site(P<0.05)and right hand 2D∶4D was significantly associated with the genotype of WNT5A gene rs1829556 site(P<0.05);the female right hand 2D∶4D was significantly associated with the MSX1 gene rs12532(P<0.01)and rs3821949(P<0.05)sites genotypes.Conclusion SOX9(rs12601701),WNT5A(rs1829556)and MSX1(rs12532 and rs3821949)gene polymorphisms may be associated with the formation of 2D∶4D in Ningxia population.
3. Association between index finger and ring finger length ratios and polymorphism of homeobox A11 gene locus among Ningxia college students
Meng-Yi YANG ; Shi-Bo NIU ; Jing ZHANG ; Jie DANG ; Zhan-Bing MA ; Hong LU ; Zheng-Hao HUO
Acta Anatomica Sinica 2024;55(1):62-66
Objective To investigate the association between the index finger and ring finger length ratio (2D ∶ 4D) and of four loci (rs6461992‚ rs6968828‚ rs7801581‚ rs17427875) polymorphism of homeobox (HOX) A11 gene among Ningxia college students. Methods Digit camera was used to collect frontal hand photos of 667 Han college students (348 males and 319 females) from Ningxia province; Image analysis software was used to mark the anatomical points and measure finger lengths of the index and ring fingers of both hands; multiplex PCR was used to detect each locus polymorphisms of HOXA11 gene; statistical software was used to compare and analyze the differences and associations of 2D ∶4D and gene polymorphisms between different genders. Results Among Ningxia Han college students‚ both left hand and right hand 2D ∶ 4D were significantly higher in females than those of in males (all P< 0. 05)‚ and there were no significant sex differences in right-left hand 2D ∶4D; the genotypes and allele frequencies of rs7801581 locus of HOXA11 gene differed significantly between genders (all P < 0. 05)‚ and none of the other locus polymorphisms showed any significant sex differences; only female left hand 2D ∶4D was significantly associated with rs6461992 locus genotype in the relationship between 2D ∶4D and HOXA11 polymorphisms (P<0. 05). Conclusion There were significant sex differences in 2D ∶ 4D among Han college students in Ningxia‚ and the rs6461992 locus polymorphism of HOXA11 gene may be associated with the formation of 2D ∶4D in females.
4.Diagnostic value and interventional treatment of elbow cyst by high frequency ultrasound.
Qi-Bing WU ; Xiao-Lin SHI ; Zhan-Sen E ; Hong SHU ; Hao ZHANG ; Yi FAN
China Journal of Orthopaedics and Traumatology 2023;36(11):1080-1084
OBJECTIVE:
To study and analyze the diagnostic value and interventional treatment value of high-frequency ultrasound for elbow cyst.
METHODS:
From February 2018 to February 2021, the data of 60 patients with elbow cyst treated by high-frequency ultrasound interventional therapy were retrospectively analyzed, including 30 males and 30 females with an average age of (30.93±5.32) years old ranging from 20 to 54 years old. The course of disease ranged from 1 to 10 years with an average of (3.45±0.25) years. High-frequency ultrasound features of all patients were analyzed. The clinical efficacy, the occurrence of adverse events and the changes of psychological status before and after treatment were analyzed.
RESULTS:
In 60 cases of elbow cyst, the cyst size was from 6 mm×7 mm to 111 mm×60 mm. The characteristics of ultrasonic images included such as most of the morphology was regular, which was round or oval, and a few were irregular;the boundary was clear, there was a capsule wall, most of the inside of the capsule was good, no echo;when accompanied by bleeding or infection, small dense points can be seen floating;the cystic wall of the patients with long course of disease was coarser, and the internal light bands were separated, showing multilocular shape;no significant blood flow signal was observed. Final results involved olecranon bursa cysts in 19 cases, annular ligament cysts in 10 cases, radial bursa cysts in 9 cases, accessory ligament cysts in 7 cases, epidermoid cysts in 4 cases, ganglion cysts in 6 cases, nerve sheath cysts in 5 cases. After treatment, 33 cases were cured, 16 cases had obvious effect, 11 cases were improved, 0 cases were invalid. After treatment, mild adverse events occurred in 1 case, moderate adverse events in 1 case, and severe adverse events in 0 cases, with a total incidence of 3.33% (2/60). After treatment, positive affect score (38.04±1.74) was higher than that before treatment (35.92±2.34), and negative affect score (24.61±1.51) was lower than that before treatment (30.15±3.46), with statistical significance(P<0.05).
CONCLUSION
High-frequency ultrasound has high diagnostic value for elbow cyst, and it has ideal effect in interventional therapy.
Male
;
Female
;
Humans
;
Adult
;
Young Adult
;
Middle Aged
;
Retrospective Studies
;
Elbow
;
Cysts
;
Ultrasonography
;
Treatment Outcome
5. Digit ratio in men with schizophrenia
Shi-Bo NIU ; Meng-Yi YANG ; Yu XU ; Jie DANG ; Zhan-Bing MA ; Zheng-Hao HUO ; Hong LU ; Shi-Bo NIU ; Meng-Yi YANG ; Yu XU ; Jie DANG ; Zhan-Bing MA ; Zheng-Hao HUO ; Hong LU
Acta Anatomica Sinica 2023;54(4):473-476
Objective To investigate the relationship between digit ratio and schizophrenia in men from Ningxia Han nationality. Methods Using anthropometry, digital camera was used to obtain finger photographs of both hands of 216 male subjects (nonnal control; 116, schizophrenia patient; 100). The anatomical points were marked and the length of each finger of both hands were measured by computer image analysis software (Image-Pro Plus 6 . 0 ) . Differences of the mean digit ratio of left and right hand 2D:3D, 2D:4D, 2D:5D, 3D:4D, 3D:5D, 4D:5D between the control group and the patient group were compared. The correlation between 2D :4D and onset age in the patient group were analyzed. Results Except for left and right hand 3D :4D, digit ratios in patient group were significantly higher than those in control group (2D :4D and 3D :5D in both hands, right hand 3D :5D, p all<0. 001; 2D :3D and 4D :5D, left hand 3D :5D, P<0. 0 1 ) . Compared with the control group (left hand; 1%, right hand; 1%) , the percentage of 2D:4D Ss 1 were significantly higher ( P<0. 05) in the patient group (left hand; 6% , right hand; 7%). There were no conelations between 2D :4D mean value and onset age in patients group (P>0. 05). Conclusion Digit ratio is related to the occurrence of schizophrenia in Ningxia Han male.
6. Association between hydroxysteroid dehydrogenases gene family single-nucleotide polymorphisms and digit ratio
Fan LI ; Zhan-Bing MA ; Jing ZHANG ; Meng-Yi YANG ; Yuan WANG ; Qian MA ; Hong LU ; Zheng-Hao HUO ; Jie DANG ; Fan LI ; Zhan-Bing MA ; Jing ZHANG ; Meng-Yi YANG ; Yuan WANG ; Qian MA ; Hong LU ; Zheng-Hao HUO ; Jie DANG
Acta Anatomica Sinica 2023;54(2):208-215
Objective To investigate the association between 8 single-nucleotide polymorphisms (SNPs) of hydroxysteroid dehydrogenase (HSD) gene family and human digit ratio (2D ∶ 4D). Methods Randomly selected 808 college students (400 males and 408 females) as subjects, the digit ratio of left and right fingers were measured and calculated using computer image software. Eight SNPs (rs1000283, rs2236903, rs5479, rs56303414, rs676387, rs4445895, rs2066474, rs8190478) in HSD11B and HSD17B gene families were genotyped by multiplex PCR. The association between 2D ∶4D and different genotypes was analyzed by One-Way ANOVA. Results Female left hand(L)2D ∶ 3D, L2D ∶4D, L3D ∶4D, right hand(R)2D ∶4D, R2D ∶5D were significantly higher than male (P<0. 05). The genotype frequency of rs2236903 (HSD11B1) was significantly different between male and female (P < 0. 05). A good linkage disequilibrium was found between rs1000283and rs2236903 of HSD11B1 gene, rs5479 and rs56303414 of HSD11B2 gene, but there was no statistical difference in frequency between male and female students(P>0. 05). The genotypes frequency of the 8 SNPs were not significantly associated with digit ratio (2D ∶4D) in both males and females (P>0. 05). Conclusion There are significant gender differences in digit ratio in Ningxia Han college students, but there is no correlation between digit ratio and 8 SNPs in HSD11B and HSD17B gene families, suggesting that HSD11B and HSD17B gene families may have nothing to do with the formation of human digit ratio.
7.Epidemiological study on the incidence of inflammatory bowel disease in Yinzhou District, Ningbo City from 2011 to 2020.
Bing Jie HE ; Zhi Ke LIU ; Peng SHEN ; Ye Xiang SUN ; Bin CHEN ; Si Yan ZHAN ; Hong Bo LIN
Journal of Peking University(Health Sciences) 2022;54(3):511-519
OBJECTIVE:
To describe the distribution characteristics of inflammatory bowel disease among permanent residents in Yinzhou District, Ningbo City, and to understand the disease burden and development trend of inflammatory bowel disease in this area.
METHODS:
Using the retrospective cohort design, we collected the registration information of all permanent residents in the residents' health files of the Yinzhou Regional Health Information Platform from 2010 to 2020, and used electronic medical records to follow up their inflammatory bowel disease visits. A one-year wash-out period was set, and the patients who were diagnosed with the primary diagnosis for the first time after one year of registration were re-garded as new cases. The incidence density and 95% confidence interval (CI) of inflammatory bowel disease were estimated by Poisson distribution.
RESULTS:
From 2011 to 2020, a total of 1 496 427 permanent residents in Yinzhou District were included, of which 729 996 were male (48.78%). The total follow-up person-years were 8 081 030.82, and the median follow-up person-years were 5.41 [interquartile range (IQR): 5.29]. During the study period, there were 1 217 new cases of inflammatory bowel disease, of which males (624 cases, 51.27%) were more than females (593 cases, 48.73%). The total incidence density was 15.06/100 000 person-years (95%CI: 14.23, 15.93). Among all new cases, there were 1 106 cases (90.88%) of ulcerative colitis, with an incidence density of 13.69 per 100 000 person-years (95%CI: 12.89, 14.52); 70 cases (5.75%) of Crohn's disease, with an incidence density of 0.87 per 100 000 person-years (95%CI: 0.68, 1.09); and 41 cases (3.37%) of indeterminate colitis, with an incidence density of 0.51 per 100 000 person-years (95%CI: 0.36, 0.69). The median age of onset of ulcerative colitis was 50.82 years old (IQR: 18.77), with the highest proportion (15.01%) in the 45-49 years group. The incidence density of ulcerative colitis gradually increased with age, reaching a relatively high level in the 45-49 years group (20.53/100 000 person-years; 95%CI: 17.63, 23.78), followed by a slight increase. And the incidence density in the 65-69 years group was the highest (25.44/100 000 person-years; 95%CI: 20.85, 30.75), with a rapid decrease in the 75-79 years group. The median age of onset of Crohn's disease was 44.34 years (IQR: 33.41), with the highest proportion (12.86%) in the 25-29 years group. Due to the small number of new cases of Crohn's disease, the age distribution fluctuated greatly, with peaks both in young and old people. From 2011 to 2020, the incidence density of inflammatory bowel disease in Yinzhou District was at a low level from 2011 to 2013, and showed a rapid upward trend from 2014 to 2016, reaching a peak of 24.62 per 100 000 person-years in 2016 (95%CI: 21.31, 28.30), and slightly decreased in 2017-2020.
CONCLUSION
The incidence density of inflammatory bowel disease in Yinzhou District from 2011 to 2020 was at a relatively high level, and medical institutions and health departments need to pay attention to the burden of disease caused by it.
Adolescent
;
Adult
;
Chronic Disease
;
Colitis, Ulcerative/epidemiology*
;
Crohn Disease/epidemiology*
;
Female
;
Humans
;
Incidence
;
Inflammatory Bowel Diseases/epidemiology*
;
Male
;
Middle Aged
;
Retrospective Studies
8.Textual Research on Nelumbinis in Famous Classical Formulas
Hui-hui LIU ; Shi-bin CHEN ; Jia-chen ZHAO ; Yi-han WANG ; Yan JIN ; Wei ZHANG ; Hua-sheng PENG ; Qiu-jie CAI ; Bing LI ; Hong-jun YANG ; Hua-min ZHANG ; Zhi-lai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(10):42-54
The name, origin, place of origin, medicinal parts, harvesting and processing of lotus are verified by consulting ancient Chinese herbal medicines and medical books, combined with modern literature, providing a basis for the development of famous classical formulas containing lotus. According to textual research, the original base of lotus is Nelumbo nucifera since ancient times, rhizome (Nelumbinis Rhizomatis Nodus), leaf (Nelumbinis Folium), seed (Nelumbinis Semen), embryo (Nelumbinis Plumula), receptacle (Nelumbinis Receptaculum), stamen (Nelumbinis Stamen) and other medicinal parts of N. nucifera can be used as medicine and have different clinical effects. Nelumbinis Semen was originally produced in Henan, and then gradually expanded to Jiangnan. Today, it can be cultivated and planted throughout the country, with Fujian, Hunan, and Jiangxi as the authentic production areas. After combing the medicinal parts of N. nucifera and the historical evolution of its processing, it is suggested that the dried and mature fruits of N. nucifera taking in autumn and removing the shell and Nelumbinis Plumula should be used in Qingxin Lianziyin. Nelumbinis Folium in Erdongtang should be harvested in summer and autumn, and the raw products was used as medicine and processed in accordance with the provision of the 2020 edition of Chinese Pharmacopoeia.
9.Textual Research on Perillae in Famous Classical Formulas
Jin-xiu QIAN ; Wu-wei MENG ; Hui -hui LIU ; Shi-bin CHEN ; Jia-chen ZHAO ; Yi-han WANG ; Yan JIN ; Wei ZHANG ; Hua-sheng PENG ; Qiu-jie CAI ; Bing LI ; Hong-jun YANG ; Hua-min ZHANG ; Zhi-lai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(10):55-67
Based on the ancient literature of all dynasties, this article makes a systematic textual research on the name, origin, producing area, quality, harvesting and processing of Zisu (Perillae) in the famous classical formulas, so as to clarify the information of the drug in different historical periods and provide a reference for the development and utilization of the related formulas. The main origin of Perillae in the ancient literature was Perilla frutescens var. frutescens (purple leaf type), followed by P. frutescens var. acuta (purple leaf type), but not Baisu. Modern chemical composition studies also show that there are obvious differences between Perillae and Baisu, which provides a scientific basis for distinguishing them. Although they are often treated as a species in plant classification, P. frutescens var. frutescens (purple leaf type) is recommended in the development of famous classical formulas, and Baisu should be avoided. Perillae is widely distributed, but its producing area did not record in most of the literature in the past dynasties, or the producing area is described as everywhere today. In the period of the Southern and Northern dynasties, the medicinal parts of Perillae included stems, leaves and seeds, and doctors in the Ming dynasty began to pay attention to the differentiation of different medicinal parts. The harvesting and processing methods of Perillae in the past dynasties are close to that of today. Perillae Fructus is mostly stir-fried and ground into medicine, Perillae Folium and Perillae Caulis are mainly simple cleansing. In production, we can refer to the 2020 edition of Chinese Pharmacopoeia.
10.Herbal Textual Research on Dendrobii Caulis in Famous Classical Formulas
Ju-run ZHAO ; Jia-chen ZHAO ; Yi-han WANG ; Yan JIN ; Wei ZHANG ; Hua-sheng PENG ; Qiu-jie CAI ; Bing LI ; Hong-jun YANG ; Hua-min ZHANG ; Zhi-lai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(10):215-228
Through consulting the ancient herbal and medical books, combined with the field investigation, the name, origin, collection and processing of Dendrobium medicinal materials were researched, which provided a basis for the development of famous classical formulas containing this kind of herbs. Due to the wide distribution of D. officinale, the Dendrobium species represented by D. officinale and D. huoshanense, which are short, fleshy and rich in mucus, should be the most mainstream of Dendrobium medicinal materials in previous dynasties. Compared with Shihu, Muhu with loose texture, long and hollow is born on trees. According to the characteristic description, it should be D. nobile, D. fimbriatum and so on, of which D. nobile was the mainstream. The Chinese meaning of Jinchai was confused in the past dynasties, so it was not suitable to be treated as a plant name. The production areas of Dendrobium medicinal materials in the past dynasties have changed with the discovery of varieties, artificial cultivation and other factors. Lu'an, Anhui province, was the earliest recorded in the Han and Wei dynasties. Since the Tang and Song dynasties, it had been extended to Guangdong and Guangxi, and it was considered that "Dendrobii Caulis in Guangnan was the best". In the Ming dynasty, Sichuan and Zhejiang products were highly praised, and in the Qing dynasty, Huoshan products were highly praised. Dendrobium medicinal materials had been used as medicine by stems in all dynasties. The medicinal materials were divided into fresh products and dry products. The fresh products can be used immediately after removing the sediment from the roots. The dry products need further processing, most of them used wine as auxiliary materials for steaming, simmer to paste or decoction into medicine. D. officinale and D. huoshanense have special processing specifications since the middle of Qing dynasty, that is, "Fengdou". According to the research results, in Ganluyin, the effect of Dendrobium medicinal materials is mainly heat clearing, and D. nobile with bitter taste can be selected. The main effect of Dendrobium medicinal materials in Dihuang Yinzi is tonic, D. officinale or D. huoshanense can be selected.

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