Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects

被引：72
作者：
Kwok, C
TylerSmith, C
Mendonca, BB
Hughes, I
Berkovitz, GD
Goodfellow, PN
Hawkins, JR
机构：
[1] UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 3EH,ENGLAND
[2] UNIV OXFORD,DEPT BIOCHEM,CRC CHROMOSOME MOL BIOL GRP,OXFORD OX1 3QU,ENGLAND
[3] UNIV HOSP,DEPT ENDOCRINOL,SAO PAULO,BRAZIL
[4] ADDENBROOKES HOSP,DEPT PAEDIAT,CAMBRIDGE CB2 2QQ,ENGLAND
[5] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,DIV PEDIAT ENDOCRINOL,BALTIMORE,MD 21205
来源：
JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 06期
基金：
英国惠康基金;
关键词：
SRY; sex reversal; SSCP;
D O I：
10.1136/jmg.33.6.465
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Mutations in the Y linked testis determining gene SRY cause 46,XY sex reversal. However, only about 15% of cases of 46,XY sex reversal are accounted for by mutations in SRY. In this study we have investigated the possibility that mutations affecting the expression of SRY might cause some of the cases of sex reversal in which the coding sequence of SRY is normal. We have screened 2 kb of DNA immediately 5' to the SRY coding sequence in 49 subjects with varying degrees of 46,XY sex reversal. Two variant bases were identified, one of which was determined to be a polymorphism and the other is unique, but familial.
引用
收藏
页码：465 / 468
页数：4
相关论文
共 26 条
[1]   ANALYSIS OF THE SRY GENE IN 22 SEX-REVERSED XY FEMALES IDENTIFIES 4 NEW POINT MUTATIONS IN THE CONSERVED DNA-BINDING DOMAIN [J].
AFFARA, NA ;
CHALMERS, IJ ;
FERGUSONSMITH, MA .
HUMAN MOLECULAR GENETICS, 1993, 2 (06) :785-789
[2]   EVIDENCE THAT THE SRY PROTEIN IS ENCODED BY A SINGLE EXON ON THE HUMAN Y-CHROMOSOME [J].
BEHLKE, MA ;
BOGAN, JS ;
BEERROMERO, P ;
PAGE, DC .
GENOMICS, 1993, 17 (03) :736-739
[3]   CLINICAL AND PATHOLOGICAL SPECTRUM OF 46,XY GONADAL-DYSGENESIS - ITS RELEVANCE TO THE UNDERSTANDING OF SEX-DIFFERENTIATION [J].
BERKOVITZ, GD ;
FECHNER, PY ;
ZACUR, HW ;
ROCK, JA ;
SNYDER, HM ;
MIGEON, CJ ;
PERLMAN, EJ .
MEDICINE, 1991, 70 (06) :375-383
[4]   GENETIC-EVIDENCE EQUATING SRY AND THE TESTIS-DETERMINING FACTOR [J].
BERTA, P ;
HAWKINS, JR ;
SINCLAIR, AH ;
TAYLOR, A ;
GRIFFITHS, BL ;
GOODFELLOW, PN ;
FELLOUS, M .
NATURE, 1990, 348 (6300) :448-450
[5]  
BRAUN A, 1993, AM J HUM GENET, V52, P578
[6]   THE HUMAN SRY TRANSCRIPT [J].
CLEPET, C ;
SCHAFER, AJ ;
SINCLAIR, AH ;
PALMER, MS ;
LOVELLBADGE, R ;
GOODFELLOW, PN .
HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2007-2012
[7]   CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL CAUSED BY MUTATIONS IN AN SRY-RELATED GENE [J].
FOSTER, JW ;
DOMINGUEZSTEGLICH, MA ;
GUIOLI, S ;
KWOK, C ;
WELLER, PA ;
STEVANOVIC, M ;
WEISSENBACH, J ;
MANSOUR, S ;
YOUNG, ID ;
GOODFELLOW, PN ;
BROOK, JD ;
SCHAFER, AJ .
NATURE, 1994, 372 (6506) :525-530
[8]   OPTIMIZATION OF THE SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) TECHNIQUE FOR DETECTION OF POINT MUTATIONS [J].
GLAVAC, D ;
DEAN, M .
HUMAN MUTATION, 1993, 2 (05) :404-414
[9]   A GENE-MAPPING TO THE SEX-DETERMINING REGION OF THE MOUSE Y-CHROMOSOME IS A MEMBER OF A NOVEL FAMILY OF EMBRYONICALLY EXPRESSED GENES [J].
GUBBAY, J ;
COLLIGNON, J ;
KOOPMAN, P ;
CAPEL, B ;
ECONOMOU, A ;
MUNSTERBERG, A ;
VIVIAN, N ;
GOODFELLOW, P ;
LOVELLBADGE, R .
NATURE, 1990, 346 (6281) :245-250
[10]  
HAWKINS JR, 1992, AM J HUM GENET, V51, P979
123