家族性SRY基因174T〉G突变一家2例分析  

Familial mutation of SRY 174T 〉 G shared by a trisomy 21 fetus and his normal father

作　　者：李发涛 廖灿 李焱 杨昕 易翠兴 

机构地区：[1]广州市妇女儿童医疗中心产前诊断中心,510623

出　　处：《国际遗传学杂志》2012年第3期161-164,共4页International Journal of Genetics

基　　金：广州市医药卫生科技项目（2009-YB-216）

摘　　要：目的检测21-三体胎儿及其父亲的SRY基因突变情况。方法采用定量荧光PCR（quantitativefluorescentPCR，QF—PCR）及核型分析方法检测唐氏筛查高风险胎儿羊水标本及其父亲外周血标本。采用SRY基因PCR产物直接DNA测序检测胎儿及父亲的SRY基因序列。结果QS—PCR检测胎儿为21-三体，父亲染色体数目未见异常；核型分析结果，胎儿：47，XY，＋21，父亲：46，XY；基因测序显示胎儿和父亲均为SRY基因174T〉G突变，此突变导致SRY蛋白的第58个氨基酸由天门冬氨酸（D）变为谷氨酸（E），即D58E。结论检测到的SRY基因174T〉G突变是一种家族性突变。Objective To report two rare cases of single family with a rare SRY gene mutation detected through prenatal diagnosis. Methods Using QF-PCR and cytogenetic analysis, a fetal amnio fluid specimen and related paternal peripheral blood sample were studied, due to the high risk for Down syndrome pregnancy. Using DNA sequencing, SRY gene mutation has been studied. Results By QF- PCR, the fetus is a trisomy 21 and the father,s karyotype is normal, as 47, XY, ＋ 21 and 46, XY, respectively. DNA sequencing showed the fetus and the father have a same SRY gene point mutation （ 174T 〉 G） at the fifty-eighth eodon position. Conclusion We first report the SRY gene 174 T 〉 G mutation as a familial mutation.

关 键 词：SRY基因 家族性突变 定量荧光聚合酶链反应 

分 类 号：R450[医药卫生—治疗学]