HAILEY-HAILEY DISEASE MAPS TO A 5 CM INTERVAL ON CHROMOSOME 3Q21-Q24

被引：22

作者：

RICHARD, G

KORGE, BP

WRIGHT, AR

MAZZANTI, C

HARTH, W

ANNICCHIARICOPETRUZZELLI, M

COMPTON, JG

BALE, SJ

机构：

[1] NIAMS, SKIN BIOL LAB, BETHESDA, MD 20892 USA

[2] UNIV COLOGNE, DERMATOL KLIN & POLIKLIN, COLOGNE, GERMANY

[3] IST DERMOPAT IMMACOLATA, ROME, ITALY

[4] HAUTKLIN ERFURT, ERFURT, GERMANY

[5] UNIV ROMA TOR VERGATA, DEPT EXPTL MED, BIOCHEM IDI, IRCCS LAB, ROME, ITALY

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 1995年 / 105卷 / 03期

关键词：

GENODERMATOSIS; EPIDERMIS; LINKAGE; FAMILIAL BENIGN CHRONIC PEMPHIGUS;

D O I：

10.1111/1523-1747.ep12320741

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Hailey-Hailey disease (HHD) is a rare autosomal dominant genodermatosis characterized by disturbed keratinocyte adhesion. The disease has recently been mapped to a 14cM region on chromosome 3q. We have further refined the location of the HHD gene by linkage analysis in six HHD families from Germany and Italy using 11 polymorphic microsatellite markers and found no evidence for genetic heterogeneity. We observed complete cosegregation between HHD and marker D3S1587, with a maximal lod score of 4.54. Detailed haplotype analyses allowed us to narrow the interval containing the HHD locus to 5cM, flanked by D3S1589 and D3S1290.

引用

页码：357 / 360

页数：4

共 29 条

[1] INTEGRATED HUMAN GENOME-WIDE MAPS CONSTRUCTED USING THE CEPH REFERENCE PANEL [J].