3号染色体p25 - 26区域二核苷酸重复多态性与冯·希佩尔-林道病的基因定位

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

作者信息

Pericak-Vance M A, Nunes K J, Whisenant E, Loeb D B, Small K W, Stajich J M, Rimmler J B, Yamaoka L H, Smith D I, Drabkin H A

机构信息

Division of Neurology, Duke University Medical Center, Durham, North Carolina 27710.

出版信息

J Med Genet. 1993 Jun;30(6):487-91. doi: 10.1136/jmg.30.6.487.

DOI:10.1136/jmg.30.6.487

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016422/

Abstract

A genetic map of highly polymorphic microsatellite markers spanning the von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEPH reference pedigrees. A greater than 1000:1 odds map of pter-D3S1038-RAF1-D3S651-D3S656-D3S110- D3S1255-cen was found. Genotyping of six multigenerational VHL families showed the region surrounding the D3S1038 marker to be the most likely location for the VHL gene with a peak location score of 10.04 with VHL completely linked to D3S1038. These data provide an initial high resolution genetic map of this region; D3S1038 appears to be a highly polymorphic marker that should prove useful in the future for presymptomatic diagnosis.

摘要

利用CEPH参考家系构建了跨越3p25的冯·希佩尔-林道区域（VHL）的高度多态性微卫星标记的遗传图谱。发现了一个从染色体短臂末端到D3S1038-RAF1-D3S651-D3S656-D3S110-D3S1255-着丝粒的大于1000:1的优势图谱。对六个多代VHL家系进行基因分型显示，D3S1038标记周围区域最有可能是VHL基因的位置，VHL与D3S1038完全连锁时的峰值定位分数为10.04。这些数据提供了该区域的初始高分辨率遗传图谱；D3S1038似乎是一个高度多态性的标记，未来应会被证明对症状前诊断有用。

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