sex reversal SRY gene mutation.The recent advances in sex determination of eutherian mammals (including humans) have disclosed a gene on the short arm of the Y chromosome which initiates male development, termed SRY(sex-determining region of the y). It is a highly conserved single copy gene wi...
the logic underpinning this model is that SRY-negative XX maleness occurs at too high a frequency to be explained by gain-of-function mutation in a male sex-determining gene, but rather is more consistent with a loss-of-function mutation in a suppressor of maleness (McElreavey et al., 19...
《医学遗传学基础》_索引_中医世家 ... spontaneous mutation 自发突变,自然突变SRY gene睾丸决定因子基因SSCP 单链 … www.zysj.com.cn|基于6个网页 例句 释义: 全部,睾丸决定因子基因 1. TheremaybetesticularrelatedfactorsotherthantheSRYgene. 本文的结果启示除SRY基因外可能存在发生睾丸的其它因子。
AnalysisofSRYgeneinpatientswithsexreversalsyndromeBAOMing-sheng * ,WUXiao-bing,CHENG Shuang-huai,LIANGYu-hua,WUShou-wei,ZHANGDing.*DepartmentofBiologicScience,BengbuMedical College,Bengbu233030,China 【Abstract】ObjectiveToinvestigatethepathogenesisofsexreversalsyndrome(SRS).MethodsThesex- ...
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient Andrologia, 51 (9) (2019), Article e13377 View in ScopusGoogle Scholar Richards et al., 2015 S. Richards, et al. Standards and guidelines for the interpretation of sequence variants: a joint...
SRY gene in Chinese,and to furtherinvestigate the relationship between SRY and PD. Methods 50 Beijing healthy male Han subjects were studied withPCR、DHPLC and sequencing,to screen the alleles of rs3583729、rs11575897 and any mutation or polymorphism inthe promoter region of the SRY gene.Results ...
No mutation is found in patients with Hermaphroditism whose SRY gene ispositive.Key words: Dysplasia; chromosome; karyotype; SRY gene 性发育异常属于遗传性疾病 ,发病率为 1‰～[ 1 ]。 自从 1990年 Sinclair等上分离出性别决定基因 ( SRY基因 )后 ,关于 SRY3‰[ 2 ]在人类 Y染色体基因与性发育异常...
Poulat F, Desclozeaux M, Tuffery S, Jay P, Boizet B and Berta P (1998) Mutation in the 5’ noncoding region of the SRY gene in an XY sex-reversed patient. Hum Mut S192–S194 Google Scholar McElreavey K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K et al (1992...
早在 40 年代 , 基因 candidate gene , 并称为 SR Y 基因 人 和 通过对兔子胚胎 (生殖腺刚开始分化) 去势实验的 ( ) SR Y 基因 小鼠 。 ( ) 研究 Jo st et al . , 1973 , 确定了哺乳动物的性别 1 SR Y 基因作为 TD F 的证据 决定和性别分化的概念 。他观察到所有的胚胎 (无 ) 论是 XX...
translocationandgenetranslocation.SRYgenemutationWaSconfirmedbyp olymerasechainreaction(PCR)andsequencingtheprod— uctsdirectly.Result:SRYgeneWaSdetectedin8CaSes:tWO46.XXmales.o ne46,XYfemale,one45,X0/46,XYfemale,one46, X.t(Y;Y)(pll;ql1)malewerepositive;one46,XXmale,one46,XYmale,one4 ...