从父亲遗传给不育儿子的Y染色体6号区间缺失的扩大，解释了RBM1和DAZ基因远端少精子症关键区域的情况。 - Suppr

Suppr

超能文献

Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes.

作者信息

Stuppia L, Calabrese G, Franchi P G, Mingarelli R, Gatta V, Palka G, Dallapiccola B

出版信息

Am J Hum Genet. 1996 Dec;59(6):1393-5.

PMID:8940286

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1914872/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2117/1914872/a4034686112e/ajhg00025-0225-a.jpg

相似文献

Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes.从父亲遗传给不育儿子的Y染色体6号区间缺失的扩大，解释了RBM1和DAZ基因远端少精子症关键区域的情况。

Am J Hum Genet. 1996 Dec;59(6):1393-5.

[From gene to disease; deletion of the DAZ-gene from the Y-chromosome in oligo- or azoospermia ].

Ned Tijdschr Geneeskd. 2001 Aug 11;145(32):1552-3.

Clustering of Y chromosome deletions in subinterval E of interval 6 supports the existence of an oligozoospermia critical region outside the DAZ gene.6号区间E子区间内Y染色体缺失的聚集现象支持了DAZ基因外存在少精子症关键区域的观点。

J Med Genet. 1997 Nov;34(11):881-3. doi: 10.1136/jmg.34.11.881.

The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility.人类Y染色体基因BPY2、CDY1和DAZ对持续生育能力并非必不可少。

Mol Hum Reprod. 2000 Sep;6(9):789-93. doi: 10.1093/molehr/6.9.789.

Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection.

Fertil Steril. 1999 Jun;71(6):1029-32. doi: 10.1016/s0015-0282(99)00150-8.

Familial mosaicism of del(Y) and inv del(Y).

Cytogenet Cell Genet. 2000;91(1-4):208-11. doi: 10.1159/000056846.

Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene.

J Endocrinol Invest. 2002 Jul-Aug;25(7):631-4. doi: 10.1007/BF03345088.

High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.严重少精子症患者中DAZ1/DAZ2基因缺失的高频率。

Mol Hum Reprod. 2002 Mar;8(3):286-98. doi: 10.1093/molehr/8.3.286.

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.采用基于序列标签位点的定位策略检测到，特发性无精子症和少精子症的不育男性中Y染色体微缺失的发生率很高。

J Clin Endocrinol Metab. 1996 Apr;81(4):1347-52. doi: 10.1210/jcem.81.4.8636331.

Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report.DAZ基因区域Y染色体臂间倒位的断点。病例报告。

J Reprod Med. 2000 Jul;45(7):591-4.

引用本文的文献

[Analysis of clinical outcome of synchronous micro-dissection testicular sperm extraction and intracytoplasmic sperm injection in male infertility with Y chromosome azoospermia factor c region deletion].[Y染色体无精子症因子c区缺失的男性不育患者同步显微切割睾丸取精术与卵胞浆内单精子注射临床结局分析]

Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Aug 18;54(4):652-657. doi: 10.19723/j.issn.1671-167X.2022.04.011.

The effects of Y chromosome microdeletions on fertilization outcomes, health abnormalities in offspring and recurrent pregnancy loss.Y染色体微缺失对受精结局、子代健康异常及复发性流产的影响。

Transl Androl Urol. 2021 Mar;10(3):1457-1466. doi: 10.21037/tau-19-672.

Relevance of genetic investigation in male infertility.基因检测在男性不育症中的相关性。

J Endocrinol Invest. 2014 May;37(5):415-27. doi: 10.1007/s40618-014-0053-1. Epub 2014 Jan 24.

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion.185 例伊朗男性不育患者 Y 染色体微缺失的临床资料。

J Assist Reprod Genet. 2012 Aug;29(8):847-53. doi: 10.1007/s10815-012-9798-7. Epub 2012 May 31.

Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.具有不一致表型和缺失大小的单卵双胞胎中的22号染色体q11.2微缺失

Mol Cytogenet. 2012 Mar 13;5(1):13. doi: 10.1186/1755-8166-5-13.

Spontaneous transmission from a father to his son of a Y chromosome microdeletion involving the deleted in azoospermia (DAZ) gene.

J Endocrinol Invest. 2002 Jul-Aug;25(7):631-4. doi: 10.1007/BF03345088.

Short stature and azoospermia in a patient with Y chromosome long arm deletion.

J Endocrinol Invest. 1997 Nov;20(10):623-8. doi: 10.1007/BF03346921.

J Med Genet. 1997 Nov;34(11):881-3. doi: 10.1136/jmg.34.11.881.

本文引用的文献

Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia.

Cytogenet Cell Genet. 1996;72(2-3):155-8. doi: 10.1159/000134174.

Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome.

Lancet. 1996 May 11;347(9011):1290-3. doi: 10.1016/s0140-6736(96)90938-1.

A minute deletion of the Y chromosome in men with azoospermia.

J Urol. 1993 Oct;150(4):1155-7. doi: 10.1016/s0022-5347(17)35712-9.

A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis.一个具有RNA结合蛋白同源性的Y染色体基因家族：控制人类精子发生的无精子症因子AZF的候选基因。

Cell. 1993 Dec 31;75(7):1287-95. doi: 10.1016/0092-8674(93)90616-x.

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.由包含一个新的RNA结合蛋白基因的Y染色体缺失导致的人类多种精子发生缺陷。

Nat Genet. 1995 Aug;10(4):383-93. doi: 10.1038/ng0895-383.

PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis.

Hum Mol Genet. 1994 Nov;3(11):1965-7. doi: 10.1093/hmg/3.11.1965.

Selective digestion of human metaphase chromosomes by Alu I restriction endonuclease.用Alu I限制性内切酶对人类中期染色体进行选择性消化。

J Histochem Cytochem. 1983 Apr;31(4):553-6. doi: 10.1177/31.4.6298309.

A rapid banding technique for human chromosomes.一种用于人类染色体的快速显带技术。

Lancet. 1971 Oct 30;2(7731):971-2. doi: 10.1016/s0140-6736(71)90287-x.

Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene.患有特发性不育症男性的Y染色体6区间微缺失指向人类精子发生基因AZF的破坏。

Hum Genet. 1992 Jul;89(5):491-6. doi: 10.1007/BF00219172.

The human Y chromosome: a 43-interval map based on naturally occurring deletions.人类Y染色体：基于自然发生缺失的43区间图谱。

Science. 1992 Oct 2;258(5079):52-9. doi: 10.1126/science.1439769.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验