• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

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

由于母体单亲二倍体16导致的假父系排除

Pseudo-exclusion from paternity due to maternal uniparental disomy 16.

作者信息

Bein G, Driller B, Schürmann M, Schneider P M, Kirchner H

机构信息

Institute of Clinical Immunology and Transfusion Medicine, Justus-Liebig-University, Giessen, Germany.

出版信息

Int J Legal Med. 1998;111(6):328-30. doi: 10.1007/s004140050181.

DOI:10.1007/s004140050181
PMID:9826094
Abstract

The investigation of a case of disputed paternity revealed indirect exclusion of the alleged father in the haptoglobin system and in the DNA single-locus system D16S309/Hinf I (MS205). The paternity index for the non-exclusion systems was > 10(6). Since both exclusion systems (HP and MS205) are located on chromosome 16, we investigated 10 microsatellite loci covering this chromosome with 10-20 cM resolution. Analysis of the child's chromosome showed only alleles of maternal origin and lack of inheritance of paternal alleles for five informative loci. The markers close to the centromere of chromosome 16 were heterozygous, whereas distal loci were either heterozygous or homozygous for maternal alleles. This is consistent with a maternal meiosis I nondisjunction of chromosome 16 leading to maternal uniparental heterodisomy. This case emphasizes that the opinion of non-paternity should be based on the absence of paternal alleles at genetic systems located on at least two different chromosomes.

摘要

对一例亲权纠纷案件的调查显示,在触珠蛋白系统和DNA单基因座系统D16S309/Hinf I(MS205)中,对被指控父亲存在间接排除。非排除系统的亲权指数>10(6)。由于两个排除系统(HP和MS205)都位于16号染色体上,我们研究了覆盖该染色体的10个微卫星基因座,分辨率为10 - 20 cM。对孩子染色体的分析显示,在5个信息性基因座上,只有母源等位基因,且缺乏父源等位基因的遗传。靠近16号染色体着丝粒的标记是杂合的,而远端基因座对于母源等位基因要么是杂合的,要么是纯合的。这与16号染色体的母源减数分裂I不分离导致母源单亲二体性是一致的。该案例强调,非父权认定的观点应基于至少两个不同染色体上的遗传系统中不存在父源等位基因。

相似文献

1
Pseudo-exclusion from paternity due to maternal uniparental disomy 16.由于母体单亲二倍体16导致的假父系排除
Int J Legal Med. 1998;111(6):328-30. doi: 10.1007/s004140050181.
2
A paternity case with three genetic incompatibilities between father and child due to maternal uniparental disomy 21 and a mutation at the Y chromosome.一例因母源单亲二体21和Y染色体突变导致父子之间存在三种基因不相容性的亲子鉴定案例。
Forensic Sci Int Genet. 2009 Mar;3(2):141-3. doi: 10.1016/j.fsigen.2008.09.010. Epub 2008 Nov 13.
3
Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.母源 21 号染色体单亲二体导致的假排除父源性。
Mol Genet Genomics. 2023 Nov;298(6):1389-1394. doi: 10.1007/s00438-023-02064-8. Epub 2023 Sep 1.
4
Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity.通过排除父系血缘发现的母源2号染色体单亲二倍体(UPD)
Am J Med Genet. 2000 Jun 5;92(4):260-3.
5
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test.通过亲子鉴定推断2号染色体整条染色体的母源单亲二体。
Int J Legal Med. 2019 Jan;133(1):71-75. doi: 10.1007/s00414-018-1811-y. Epub 2018 Mar 6.
6
Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.
Clin Genet. 1999 Jun;55(6):483-6. doi: 10.1034/j.1399-0004.1999.550615.x.
7
Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2.尽管在染色体 2 上存在三种遗传不相容性,但仍可确认亲子关系。
Genes (Basel). 2021 Jan 4;12(1):62. doi: 10.3390/genes12010062.
8
Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.在一例亲权鉴定案例中发现 2 号染色体完全父源单亲二体性。
Transfusion. 2013 Jun;53(6):1266-9. doi: 10.1111/j.1537-2995.2012.03863.x. Epub 2012 Aug 23.
9
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.一名患有色素性视网膜炎但无听力损失且II型Usher综合征基因USH2A存在错义突变的患者,存在父源单亲二体性并伴有1号染色体部分等二体性。
Arch Ophthalmol. 2002 Nov;120(11):1566-71. doi: 10.1001/archopht.120.11.1566.
10
Paternal exclusion: allele sharing in microsatellite testing.父系排除:微卫星检测中的等位基因共享
Clin Chem Lab Med. 2008;46(11):1586-8. doi: 10.1515/CCLM.2008.312.

引用本文的文献

1
Maternal uniparental disomy of chromosome 21 as a cause of pseudo-exclusion from paternity.母源 21 号染色体单亲二体导致的假排除父源性。
Mol Genet Genomics. 2023 Nov;298(6):1389-1394. doi: 10.1007/s00438-023-02064-8. Epub 2023 Sep 1.
2
Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2.尽管在染色体 2 上存在三种遗传不相容性,但仍可确认亲子关系。
Genes (Basel). 2021 Jan 4;12(1):62. doi: 10.3390/genes12010062.
3
Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report.
通过亲子鉴定发现的母源6号染色体单亲等臂双体:一例报告
Mol Cytogenet. 2018 Dec 20;11:60. doi: 10.1186/s13039-018-0411-3. eCollection 2018.
4
Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test.通过亲子鉴定推断2号染色体整条染色体的母源单亲二体。
Int J Legal Med. 2019 Jan;133(1):71-75. doi: 10.1007/s00414-018-1811-y. Epub 2018 Mar 6.
5
Mother-child exclusion due to paternal uniparental disomy 6.因父源单亲二体6导致的母婴排除。
Int J Legal Med. 2006 Sep;120(5):282-5. doi: 10.1007/s00414-006-0077-y. Epub 2006 Apr 8.
6
Use of X-linked markers for forensic purposes.用于法医目的的X连锁标记物的应用。
Int J Legal Med. 2003 Apr;117(2):67-74. doi: 10.1007/s00414-002-0352-5. Epub 2003 Feb 15.
7
Assessing probability of ancestry using simple sequence repeat profiles: applications to maize hybrids and inbreds.利用简单序列重复谱评估祖先概率:在玉米杂交种和自交系中的应用
Genetics. 2002 Jun;161(2):813-24. doi: 10.1093/genetics/161.2.813.