PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION ON CHROMOSOME-7Q36

被引：80
作者：
GURRIERI, F
TRASK, BJ
VANDENENGH, G
KRAUSS, CM
SCHINZEL, A
PETTENATI, MJ
SCHINDLER, D
DIETZBAND, J
VERGNAUD, G
SCHERER, SW
TSUI, LC
MUENKE, M
机构：
[1] CHILDRENS HOSP PHILADELPHIA,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT PEDIAT,DIV HUMAN GENET & MOLEC BIOL,PHILADELPHIA,PA 19104
[3] LAWRENCE LIVERMORE NATL LAB,DIV BIOMED SCI,LIVERMORE,CA 94550
[4] HARVARD COMMUNITY HLTH PLAN,BOSTON,MA 02116
[5] INST MED GENET,ZURICH,SWITZERLAND
[6] WAKE FOREST UNIV,BOWMAN GRAY SCH MED,DEPT PEDIAT,DIV MED GENET,WINSTON SALEM,NC 27103
[7] INST HUMAN GENET & ANTHROPOL,WURZBURG,GERMANY
[8] ONCOR INC,GAITHERSBURG,MD 20884
[9] CTR ETUD BOUCHET,F-91710 VERT LE PETIT,FRANCE
[10] HOSP SICK CHILDREN,DEPT GENET,TORONTO M5G 1X8,ONTARIO,CANADA
来源：
NATURE GENETICS | 1993年 / 3卷 / 03期
关键词：
D O I：
10.1038/ng0393-247
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：247 / 251
页数：5
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