Cytogenetic analysis of 531 Chinese women with premature ovarian failure
نویسندگان
چکیده
منابع مشابه
Cytogenetic analysis of 179 Iranian women with premature ovarian failure.
The importance of chromosomal abnormalities in etiology of premature ovarian failure (POF) is well known but in many cases, POF still remains idiopathic. We investigated the frequency and type of chromosomal aberrations in Iranian women diagnosed with idiopathic POF. Standard cytogenetic analysis was carried out in a total of 179 patients. Karyotype analysis of these patients revealed that 161 ...
متن کاملP-125: Identification of Novel Missense Mutations of The TGFBR3 Gene in Chinese Women with Premature Ovarian Failure
Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...
متن کاملMutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure
BACKGROUND The WNT4 gene plays an important role in female sex determination and differentiation. It also contributes to maintaining of the ovaries and the survival of follicles. METHODS We sequenced the coding region and splice sites of WNT4 in 145 Han Chinese women with premature ovarian failure (POF) and 200 healthy controls. RESULTS Only one novel variation, in Exon 2 (195C > T), was de...
متن کاملMutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.
Pluripotency associated transcription factor, SAL-Like 4 (SALL4), might play an important role in conferring totipotency on oocytes. In the present study, we screened SALL4 coding regions for mutations in 100 Han Chinese women with non-syndromic ovarian failure and discovered two novel non-synonymous variants in the SALL4 gene: c.541G>A (p.Val181Met) and c.2449A>G. (p.Thr817Ala). The former var...
متن کاملPremature ovarian failure in women with epilepsy.
PURPOSE Women with epilepsy (WWE) have an increased risk for several reproductive endocrine disorders that may affect their fertility. The incidence of premature ovarian failure (POF) in women with epilepsy has not been systematically studied. This study examined the incidence of POF in women with epilepsy. METHODS Fifty consecutively evaluated cognitively normal women with epilepsy, aged 38-...
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ژورنال
عنوان ژورنال: Human Reproduction
سال: 2012
ISSN: 0268-1161,1460-2350
DOI: 10.1093/humrep/des104