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IR@PKUHSC  > 北京大学第三临床医学院  > 期刊论文
学科主题: 临床医学
题名:
Cytogenetic analysis of 531 Chinese women with premature ovarian failure
作者: Jiao, Xue1; Qin, Chunrong2; Li, Jie3; Qin, Yingying1; Gao, Xuan1; Zhang, Bo4; Zhen, Xiumei5,6; Feng, Yun7; Simpson, Joe Leigh8; Chen, Zi-Jiang1
关键词: premature ovarian failure ; X chromosome abnormalities ; infertility ; mosaicism ; karyotype
刊名: HUMAN REPRODUCTION
发表日期: 2012-07-01
DOI: 10.1093/humrep/des104
卷: 27, 期:7, 页:2201-2207
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Obstetrics & Gynecology ; Reproductive Biology
研究领域[WOS]: Obstetrics & Gynecology ; Reproductive Biology
关键词[WOS]: X-CHROMOSOME ; CANDIDATE GENES ; DELETION ; DYSGENESIS ; MUTATION ; MOTHER
英文摘要:

This retrospective cohort study was to determine the frequency and types of chromosomal abnormalities in Han Chinese women with well-documented premature ovarian failure (POF).

Karyotype analysis and correlation to phenotypes were performed on 531 Chinese patients with proven POF (FSH 40 mIU/ml) attending four reproductive centers in China. G-banded metaphase chromosomes were prepared and analyzed, with mosaicism excluded by counting up to 100 cells from lymphocytes.

Chromosomal abnormalities were present in 64 of 531 (12.1) POF cases, of which 32 were X-structural aberrations (7 mosaic): 15 del(Xq), 2 del(Xp), 11 isochromosomes [6 i(Xp); 5 i(Xq)], 1 ring chromosome (mosaic), 1 inversion (mosaic), 1 isodicentric chromosome and 1 complex arrangement. Nine non-mosaic X-autosome translocations were detected, all but 1 involving Xq. Aneuploidy without a structurally abnormal X was found in 19 cases: 7 non-mosaic 45,X, 9 45,X mosaicisms and 3 47,XXX (1 mosaic with 46,XX line). Karyotypic abnormalities were more frequent in patients with primary amenorrhea (15/70, 21.4) than those with secondary amenorrhea (49/461, 10.6; P 0.01). 45,X and 45,X/46,XX mosaicism were the complements most frequently associated with primary amenorrhea (46.7). Two of the three cases with 46,XY or 45,X/46,XY karyotype presented with osecondary amenorrhea′. One balanced autosomal Robertsonian translocation was also detected.

The overall prevalence of chromosomal abnormalities was 12.1 in this first large scale report of chromosomal aberrations in Chinese women with POF. In one of the largest samples of women with POF reported from any population, the prevalence of X-structural abnormalities, X-autosome translocations and X aneuploidy confirms the essential role X chromosomal abnormalities play in POF.

语种: 英语
所属项目编号: 81000236 ; 30973170 ; 2012CB944700 ; 2010CB945002 ; 2007CB947403 ; 201078
项目资助者: National Natural Science Foundation of China ; National Basic Research Program of China (973 program) ; Foundation for the Author of National Excellent Doctoral Dissertation of PR China
WOS记录号: WOS:000305458800035
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63956
Appears in Collections:北京大学第三临床医学院_期刊论文

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作者单位: 1.Maternal & Child Hlth Hosp Shenzhen, Shenzhen, Peoples R China
2.Minist Educ, Key Lab Assisted Reprod, Beijing, Peoples R China
3.Shandong Univ, Prov Hosp,Minist Educ, Ctr Reprod Med,Key Lab Reprod Endocrinol,Shandong, Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan 250021, Peoples R China
4.Sun Yat Sen Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Reprod Med Ctr, Guangzhou 510080, Guangdong, Peoples R China
5.Maternal & Child Hlth Hosp Guangxi, Ctr Reprod Med, Guangxi, Peoples R China
6.Peking Univ, Dept Obstet & Gynecol, Hosp 3, Beijing 100871, Peoples R China
7.Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Reprod Med Ctr, Shanghai 200030, Peoples R China
8.Florida Int Univ, Coll Med, Miami, FL 33199 USA

Recommended Citation:
Jiao, Xue,Qin, Chunrong,Li, Jie,et al. Cytogenetic analysis of 531 Chinese women with premature ovarian failure[J]. HUMAN REPRODUCTION,2012,27(7):2201-2207.
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