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

页码：465 / 468

页数：4

共 50 条

[21] Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome
Marchina, Eleonora
Gambera, Alessandro
Spinelli, Elide
Clerici, Paola
Scagliola, Pasquale
Sartori, Enrico
Barlati, Sergio
FERTILITY AND STERILITY, 2009, 91 (03) : 932.e7 - 932.e11
[22] True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene
Maier, EM
Leitner, C
Löhrs, U
Kuhnle, U
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2003, 16 (04): : 575 - 580
[23] XY oocytes of sex-reversed females with a Sry mutation deviate from the normal developmental process beyond the mitotic stage
Sakashita, Akihiko
Wakai, Takuya
Kawabata, Yukiko
Nishimura, Chiaki
Sotomaru, Yusuke
Alavattam, Kris G.
Namekawa, Satoshi H.
Kono, Tomohiro
BIOLOGY OF REPRODUCTION, 2019, 100 (03) : 697 - 710
[24] XY FEMALES WITH CONDITIONAL MUTATION OF SRY IN THE TESTIS-DETERMINING REGION SUGGESTS OTHER SEX-DETERMINING GENES IN HUMANS
MCELREAVEY, K
VILAIN, N
ABBAS, F
RICHAUD, F
FELLOUS, M
CYTOGENETICS AND CELL GENETICS, 1991, 58 (3-4): : 2093 - 2093
[25] 2 NOVEL SRY MISSENSE MUTATIONS REDUCING DNA-BINDING IDENTIFIED IN XY FEMALES AND THEIR MOSAIC FATHERS
SCHMITT-NEY, M
THIELE, H
KALTWASSER, P
BARDONI, B
CISTERNINO, M
SCHERER, G
AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 56 (04) : 862 - 869
[26] A NOVEL NONSENSE MUTATION IN THE HMG BOX OF THE SRY GENE IN A PATIENT WITH XY SEX REVERSAL
IIDA, T
NAKAHORI, Y
KOMAKI, R
MORI, E
HAYASHI, N
TSUTSUMI, O
TAKETANI, Y
NAKAGOME, Y
HUMAN MOLECULAR GENETICS, 1994, 3 (08) : 1437 - 1438
[27] ANALYSIS OF THE SRY GENE IN A GIRL WITH 45,X/46,XY GENOTYPE
Akbas, E.
Soylemez, F.
Hallioglu, O.
Polat, S.
Turkoz, G.
GENETIC COUNSELING, 2009, 20 (03): : 249 - 254
[28] MUTATIONAL ANALYSIS OF SRY - NONSENSE AND MISSENSE MUTATIONS IN XY SEX REVERSAL
HAWKINS, JR
TAYLOR, A
BERTA, P
LEVILLIERS, J
VANDERAUWERA, B
GOODFELLOW, PN
HUMAN GENETICS, 1992, 88 (04) : 471 - 474
[29] Candidate genes in complete and partial XY sex reversal:: Mutation analysis of SRY, SRY-related genes and FTZ-F1
Lim, HN
Freestone, SH
Romero, D
Kwok, C
Hughes, IA
Hawkins, JR
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1998, 140 (1-2) : 51 - 58
[30] THE PRESENCE OF THE TESTICULAR DETERMINING SEQUENCE, SRY, IN 46,XY FEMALES WITH GONADAL-DYSGENESIS (SWYER SYNDROME)
BEHZADIAN, MA
THO, SPT
MCDONOUGH, PG
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1991, 165 (06) : 1887 - 1890

← 1 2 3 4 5 →