Veitia R, Ion A, Barbaux S, Jobling M A, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K
Unité d'Immunogénétique Humaine, Institut Pasteur, Paris, France.
Hum Genet. 1997 May;99(5):648-52. doi: 10.1007/s004390050422.
The testis-determining gene SRY (sex determining region, Y) is located on the short arm of the Y chromosome and consists of a single exon, the central third of which is predicted to encode a conserved motif with DNA binding/bending properties. We describe the screening of 26 patients who presented with 46,XY partial or complete gonadal dysgenesis for mutations in both the SRY open reading frame (ORF) and in 3.8 kb of Y-specific flanking sequences. DNA samples were screened by using the fluorescence-assisted mismatch analysis (FAMA) method. In two patients, de novo mutations causing complete gonadal dysgenesis were detected in the SRY ORF. One was a nonsense mutation 5' to the HMG box, whereas the other was a missense substitution located at the C terminus of the conserved motif and identical to one previously detected in an unrelated patient. In addition, two Y-specific polymorphisms were found 5' to the SRY gene, and a sequence variant was identified 3' to the SRY polyadenylation site. No duplications of the DSS region in 20 of these patients were detected.
睾丸决定基因SRY（Y染色体性别决定区）位于Y染色体短臂上，由一个外显子组成，其中央三分之一预计编码具有DNA结合/弯曲特性的保守基序。我们描述了对26例表现为46,XY部分或完全性腺发育不全患者的SRY开放阅读框（ORF）和3.8 kb Y特异性侧翼序列中的突变进行筛查的情况。通过荧光辅助错配分析（FAMA）方法对DNA样本进行筛查。在两名患者中，在SRY ORF中检测到导致完全性腺发育不全的新生突变。一个是位于HMG框5'端的无义突变，另一个是位于保守基序C末端的错义替代，与先前在一名无关患者中检测到的相同。此外，在SRY基因5'端发现了两个Y特异性多态性，在SRY多聚腺苷酸化位点3'端鉴定出一个序列变异。在这些患者中的20例中未检测到DSS区域的重复。
