7号染色体q36区域全前脑畸形关键区域的物理图谱构建。

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

作者信息

Gurrieri F, Trask B J, van den Engh G, Krauss C M, Schinzel A, Pettenati M J, Schindler D, Dietz-Band J, Vergnaud G, Scherer S W

机构信息

Children's Hospital of Philadelphia, Pennsylvania.

出版信息

Nat Genet. 1993 Mar;3(3):247-51. doi: 10.1038/ng0393-247.

DOI:10.1038/ng0393-247

PMID:8485580

Abstract

Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical map of 7q32-qter. As a first step towards cloning an HPE gene crucial for normal brain development, we have defined the HPE minimal critical region in 7q36 between D7S292 and D7S392.

摘要

前脑无裂畸形（HPE）是一种涉及脑和面部的发育性区域缺陷。HPE患者的细胞遗传学缺失已将其中一个HPE基因定位到染色体区域7q36。我们已对13例HPE患者的7q缺失进行了特征分析。结果是构建了7q32 - qter的高分辨率物理图谱。作为克隆对正常脑发育至关重要的HPE基因的第一步，我们已确定了7q36中位于D7S292和D7S392之间的HPE最小关键区域。