1.Value of IHb map in the diagnosis of coiorectal lesions
Jiaolian CHEN ; Chuqing HUANG ; Weirun ZHONG ; Pinghu CHEN
Chinese Journal of Primary Medicine and Pharmacy 2009;16(7):1215-1216
Objective To evaluate the value of IHb map in colorectal lesions. Methods IHb map images was observed in 267 patients with colorectal lesions using colonoscopy. Biopsies were taken and microvessel density (MVD) were examined by immunohistochemical staining. Results Colorectal polyps were found in 133 patient,IHb values were higher in inflammatory and adenomatous polyps,and IHb values of hyperplastic polyps were significantly lower than that of inflammatory polyps(P < 0.01). IHb values were higher in the specimens of more inflammatory cell infiltration than normal mucosa (P < 0.05). IHb values seemed to be related to tumor differentiation. An increased IHb values was more frequently observed in differentiated carcinoma than in undifferentiated carcinoma(P < 0.05). The higher of IHb values, the higher of MVD (P < 0.01). Conclusion To oporate IHb map is simple, measurement of IHb map is useful in detecting minimal lesion in colorectal lesions,distingnishing the benign from the malignant,de-termining the extent of the lesion and do endoscopic treatment timely.
2.Analysis of beta-globin gene variants in Liuzhou area of Guangxi.
Lizhu CHEN ; Shiqiang LUO ; Ning TANG ; Qiuhua WANG ; Zehui XU ; Liuqun QIN ; Jingren WANG ; Qingyan ZHONG ; Jiaolian YA ; Xiaoli LIU ; Ren CAI ; Jun HUANG
Chinese Journal of Medical Genetics 2020;37(4):378-383
OBJECTIVE:
To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China.
METHODS:
From January to December 2017, 13 847 individuals who came for premarital examination, maternity examination or health check were recruited with informed consent. The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. Individuals with inconsistent results by blood test, electrophoresis, and RDB were subjected to Sanger sequencing to detect rare variants of the beta globin gene.
RESULTS:
In total 2098 individuals were found to harbor beta-thalassemia-associated variants, which included 2075 heterozygotes (98.90%), 12 compound heterozygotes (0.57%) and 11 homozygotes (0.52%). CD41-42 (48.43%) and CD17 (31.45%) were the most common variants. Three hundred and thirty eight-individuals were found to also carry heterozygous variants of the alpha globin gene, with the most common types being --SEA/aa, -a3.7/aa, aCSa/aa, -a4.2/aa. Through Sanger sequencing, rare genotypes such as beta-32/betaN, betaCD41-42/betaIVS-II-5 and betaCD30/betaN were detected.
CONCLUSION
Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. Genetic counseling and prenatal diagnosis for the carrier population is crucial for the reduction of the related birth defects. Our result may provide valuable information for the prevention and control of beta-thalassemia in this area.
China
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Female
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Genetic Counseling
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Genetic Variation
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Genotype
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Humans
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Mutation
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Pregnancy
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Prenatal Diagnosis
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alpha-Globins
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genetics
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beta-Globins
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genetics
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beta-Thalassemia
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diagnosis
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genetics