Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism

被引：13

作者：

Canto, P ^{[1
]}

Galicia, N ^{[1
]}

Söderlund, D ^{[1
]}

Escudero, I ^{[1
]}

Méndez, JP ^{[1
]}

机构：

[1] Hosp Pediat Mexico City, Inst Mexicano Seguro Social, Ctr Med Nacl Siglo 21, Res Unit Dev Biol, Mexico City, DF, Mexico

来源：

EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY | 2004年 / 115卷 / 01期

关键词：

ORF; 5 ' and 3 ' flanking regions of the SRY gene; MGD; TS and Y mosaicism;

D O I：

10.1016/j.ejogrb.2003.10.035

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Objective: To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism. Study design: We studied 13 patients with MGD and three patients with TS and Y mosaicism. DNA was isolated from blood leukocytes for subsequent polymerase chain reaction (PCR) and direct sequencing were performed in the ORF, as well as from the 5' and 3' flanking regions of the SRY gene. Results: No mutations were present in any of the patients studied. Conclusion: The absence of mutations in these regions indicated that mutations were an unlikely cause of MGD or TS with Y mosaicism and suggested that there are others genes playing an important role in sex development. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：55 / 58

页数：4

共 21 条

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