XX真两性畸形患者中不存在睾丸决定因子基因SRY，而在大多数由Y染色体非整倍体导致性腺发育不全的患者中存在该基因位点。

Absence of the testicular determining factor gene SRY in XX true hermaphrodites and presence of this locus in most subjects with gonadal dysgenesis caused by Y aneuploidy.

作者信息

Tho S P, Layman L C, Lanclos K D, Plouffe L, Byrd J R, McDonough P G

机构信息

Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta 30912-3360.

出版信息

Am J Obstet Gynecol. 1992 Dec;167(6):1794-802. doi: 10.1016/0002-9378(92)91777-8.

DOI:10.1016/0002-9378(92)91777-8

PMID:1471700

Abstract

OBJECTIVES

The purpose of our study was to discover whether the testicular determining factor gene SRY (sex-determining region on Y) is present or absent in XX true hermaphrodites and in subjects with gonadal dysgenesis caused by Y aneuploidy.

STUDY DESIGN

We screened five XX true hermaphrodites and 24 subjects with gonadal dysgenesis caused by Y aneuploidy for the presence or absence of SRY. With the polymerase chain reaction technique, the sequence coding the 80 amino acid-conserved motif was amplified. The 0.9 kb Hincll pY53.3 subclone, which covers the open reading frame of SRY, serves as a probe for Southern blot analysis.

RESULTS

Test results for all five XX true hermaphrodites were negative for SRY. Conversely, 22 of the 24 individuals with 45,X/46,XY gonadal dysgenesis were positive for SRY, including the 10 subjects with only bilateral streak gonads.

CONCLUSIONS

The absence of SRY in XX true hemaphrodites and the presence of SRY in 10 subjects with 45,X/46,XY constitution who harbored only bilateral streak gonads seem to indicate that multiple genes are involved in gonadal differentiation.

摘要