样本编号	SAMC2637849
外部数据库编号	GSA-Human: HRS785978
样品名称	D9 DNA
样本标题	DNAH1 mutation propositus
样品类型	Human sample
物种名称	Homo sapiens
描述信息	propositus
样本属性	*该样本包含更多受控访问信息，请通过GSA-Human系统申请项目HRA004212数据获取。
发布日期	2025-03-21
项目编号	PRJCA011671
提交者	Guoning Huang (gnhuang217@sina.com)
提交单位	Chongqing Health Center for Women and Children
提交日期	2023-06-18

样本包含数据信息

资源名称	描述
GSA-Human (1)	-
HRA004212 (Controlled Access)	This study aimed to identify novel variants and mutant hotspot in DNAH1 gene related to multiple morphological abnormalities of sperm flagella (MMAF) and male infertility in the Han Chinese males. A total of thirty-five patients with MMAF phenotype were recruited from the center for reproductive medicine from August 2019 to June 2022. T We totally identified 18 different DNAH1 variants (NM_015512.5) in 11 of 35 MMAF-affected males, including 9 missense variants (c.7690G>A, p.A2564T; c.10970C>G, p.T3657R; c.5584G>A, p.G1862R; c.6887T>C, p.L2296P; c.12122C>T, p.T4041I; c.1832T>C, p.L611P; c.2738C>A, p.A913D; c.5795G>A, p.R1932Q; c.7066C>T, p.R2356W) and 9 loss-of-function variants (c.11726_11727delCT, p.P3909Rfs33; c.12172C>T, p.Q4058; c.5104C>T, p.R1702; c.12210del, p.V4071Cfs54; c.8533del, p.D2845Mfs2; c.12178_12190del, p.E4060Pfs61; c.2301-1G>T; c.4552C>T, p.Q1518; c.12118_12119delCA, p.Q4040Dfs33). Moreover, 66.7% (12/18) of the identified variants were novel.

资源名称

描述

GSA-Human (1)

HRA004212 (Controlled Access)

This study aimed to identify novel variants and mutant hotspot in DNAH1 gene related to multiple morphological abnormalities of sperm flagella (MMAF) and male infertility in the Han Chinese males. A total of thirty-five patients with MMAF phenotype were recruited from the center for reproductive medicine from August 2019 to June 2022. T We totally identified 18 different DNAH1 variants (NM_015512.5) in 11 of 35 MMAF-affected males, including 9 missense variants (c.7690G>A, p.A2564T; c.10970C>G, p.T3657R; c.5584G>A, p.G1862R; c.6887T>C, p.L2296P; c.12122C>T, p.T4041I; c.1832T>C, p.L611P; c.2738C>A, p.A913D; c.5795G>A, p.R1932Q; c.7066C>T, p.R2356W) and 9 loss-of-function variants (c.11726_11727delCT, p.P3909Rfs*33; c.12172C>T, p.Q4058*; c.5104C>T, p.R1702*; c.12210del, p.V4071Cfs*54; c.8533del, p.D2845Mfs*2; c.12178_12190del, p.E4060Pfs*61; c.2301-1G>T; c.4552C>T, p.Q1518*; c.12118_12119delCA, p.Q4040Dfs*33). Moreover, 66.7% (12/18) of the identified variants were novel.