Family-based association study of a variable number of tandem repeat polymorphism of DAT1 gene with Tourette syndrome in a Chinese Han population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the association of a 40 bp variable number of tandem repeat (VNTR) polymorphism within 3 untranslated region of dopamine transporter gene (DAT1) with Tourette syndrome (TS) in a Chinese Han population.</p><p><b>METHODS</b>A total of 160 TS patients and their parents were recruited. The VNTR polymorphism was detected with polymerase chain reaction-VNTR analysis, and its association with TS and its subtypes were assessed through a family-based association study comprising transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis.</p><p><b>RESULTS</b>The repeat numbers at the DAT1 40 bp locus were 11, 10, 9, 7.5 and 7 among the patients and their parents, with the most common type being a 10-repeat allele. No significant association was detected between the polymorphism and TS (TDT: X ² = 0.472, df = 1, P = 0.583; HRR: X ² = 0.313, P = 0.576, OR = 0.855, 95%CI: 0.493-1.481).</p><p><b>CONCLUSION</b>Our data suggested that the VNTR polymorphism of DAT1 gene is not associated with susceptibility to TS in Chinese Han population. However, our results are to be validated in larger sets of patients collected from other populations.</p>

The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.</p><p><b>METHODS</b>Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.</p><p><b>RESULTS</b>Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia.</p><p><b>CONCLUSION</b>The SRY gene is key in sex determination and development, yet there might be other important genes involved.</p>