Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility
Analyzing the possible involvement of anti-Müllerian hormone and anti-Müllerian hormone receptor II single nucleotide polymorphism in infertility
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分析抗苗勒氏管激素和抗苗勒管激素受体II单核苷酸多态性与不孕症的可能关系
DOI：
10.1007/s10815-013-0134-7
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发表时间：
2014
影响因子：
3.1
通讯作者：
M. Ohmichi
中科院分区：
文献类型：
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作者：
Y. Yoshida;Y. Yamashita;N. Saito;Y. Ono;H. Yamamoto;Y. Nakamura;A. Hayashi;Y. Terai;M. Ohmichi
目的我们进行了抗苗勒管激素（AMH）和抗苗勒管激素受体II型（AMHRII）单核苷酸多态性（SNP）的TaqMan基因分型测定，以研究其频率和分布如何影响不孕症治疗结果。（高龄：n = 51，子宫内膜异位症：n = 18，男性不育作为对照：n = 11）进行ART的夫妇被纳入研究，所有夫妇都接受了完整的不育调查方案。为了研究SNPs的自然分布，从我科自然怀孕并随后分娩的妇女中招募了28名自然怀孕的受试者。从外周血中提取基因组DNA，并通过TaqMan基因分型法进行基因分型。AMH和AMHRII单核苷酸多态性与不孕妇女治疗结果的关系结果AMHRII −482 A>G纯合子突变与ISV 5-6 C>T纯合子突变复杂，与野生型相比，其取卵率显著降低。3例AMHR II −482 A>G纯合子突变中有2例为不良反应者，自然妊娠妇女各等位基因的分布和频率与不孕妇女相比无统计学差异。
PurposeWe performed TaqMan genotyping assays of anti-Mullerian hormone (AMH) and anti-Mullerian hormone receptor type II (AMHRII) single nucleotide polymorphisms (SNPs) in order to investigate how their frequency and distribution affect infertility treatment outcome.MethodsEighty Japanese women (advanced age: n = 51, endometriosis: n = 18, male infertility as a control: n = 11) who undertook ART were included in the study, and all couples underwent a full infertility investigation protocol. In order to investigate the natural distribution of SNPs, a naturally pregnant group of 28 subjects was recruited from among women who conceived naturally and subsequently delivered in our department. Genomic DNA was extracted from peripheral blood and genotyping was conducted by TaqMan genotyping assay. The relationship of AMH and AMHRII SNPs and treatment outcome in infertile women. Comparison of allele and genotype frequencies of infertile patients with naturally pregnant women.ResultsAMHRII −482 A>G homozygote mutation was complicated with ISV 5–6 C>T homozygote mutation and showed a significantly lower oocyte retrieval rate compared with a wild type. Two of 3 cases of AMHRII −482 A>G homozygote mutation were poor responders, and the distribution and frequency of each allele of naturally pregnant women showed no statistical difference compared with infertile women.ConclusionsThis study revealed the possible involvement of AMHRII −482 A>G polymorphism on the malfunction of follicular development in Japanese women.
使用吉布斯采样和最小描述长度编码对转录因子结合位点进行建模。
DOI：
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发表时间：
1997
期刊：
Proceedings. International Conference on Intelligent Systems for Molecular Biology
影响因子：
--
作者：
Schug,J;Overton,GC
通讯作者：
Overton,GC