FISH DETECTION OF WOLF-HIRSCHHORN SYNDROME - EXCLUSION OF D4F26 AS CRITICAL SITE

被引：23

作者：

JOHNSON, VP

ALTHERR, MR

BLAKE, JM

KEPPEN, LD

机构：

[1] UNIV S DAKOTA,SCH MED,SIOUX FALLS,SD

[2] UNIV S DAKOTA,SCH MED,DEPT PEDIAT,SIOUX FALLS,SD

[3] LOS ALAMOS NATL LAB,LOS ALAMOS,NM

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 52卷 / 01期

关键词：

WOLF-HIRSCHHORN SYNDROME; 4P DELETION; FISH; DNA DELETION MAPPING; CONTIGUOUS GENE SYNDROME;

D O I：

10.1002/ajmg.1320520114

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Wolf-Hirschhorn syndrome (WHS) is due to a deletion in the terminal band of 4p16.3. Among loci that have been involved in deletions are D4S98, D4S95, D4S125, D4F26, as shown by PCR typing, Southern blot hybridization, and/or fluorescent in situ hybridization (FISH). Currently, FISH detection of WHS is predicated upon the deletion of the D4F26 locus with failure to hybridize to pC847.351, a commercially available cosmid probe. A WHS patient is shown to have an interstitial deletion, by hemizygosity at D4S98 and D4S95 but not at D4F26. This suggests that the tip of 4p, specifically D4F26, is not a critical deletion site for WHS. (C) 1994 Wiley-Liss, Inc.

引用

页码：70 / 74

页数：5

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