Xiang Ping-Xia, Dai Xiang, Leng Pei, Liu Ling, Hu Xi-Jiang
Department of Reproductive Medicine Laboratory, Wuhan Women and Children's Hospital, Wuhan 430016, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2013 Jul;15(7):555-8.
To investigate the value of direct sequencing of sex-determining region Y (SRY) gene, as well as peripheral blood karyotype analysis, in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.
The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis. PCR amplification was used to detect SRY gene in these patients, and direct sequencing was used to judge whether there was SRY gene mutation.
Of the 20 cases, 17 were positive for SRY gene, and 3 were negative for SRY gene. Direct sequencing revealed no SRY gene mutation in the positive cases, however karyotype analysis found 4 special karyotypes in these patients: 46, XY, del(Y) (q12)/45, X; 46, XY, add(Y) (p11); 46, XY, r(9); 46, XY, 9qh+.
SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection. Used together with G-banding analysis, it is helpful for primary diagnosis of DSD among children.
探讨Y染色体性别决定区（SRY）基因直接测序及外周血核型分析在诊断生殖器模糊的儿童及青少年性发育障碍（DSD）中的价值。
采用常规G显带分析确定20例生殖器模糊的儿童及青少年的核型。应用聚合酶链反应（PCR）扩增检测这些患者的SRY基因，并采用直接测序法判断是否存在SRY基因突变。
20例患者中，17例SRY基因阳性，3例SRY基因阴性。直接测序显示阳性病例中无SRY基因突变，但核型分析在这些患者中发现4种特殊核型：46, XY, del(Y)(q12)/45, X；46, XY, add(Y)(p11)；46, XY, r(9)；46, XY, 9qh+。
SRY基因检测有助于确定儿童DSD的类型，具有检测快速的优点。与G显带分析联合应用，有助于儿童DSD的初步诊断。
