|
Title
|
|
|
|
The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32
| |
|
Author
|
|
|
|
| |
|
Abstract
|
|
|
|
| Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. The symptoms are generally refractory to treatment and persist throughout life. Five kindreds with multiple cases of primary erythermalgia were identified, and the largest was subjected to a genomewide search. We detected strong evidence for linkage of the primary erythermalgia locus to markers from chromosome 2q. The highest LOD score (Z) was obtained with D2S2330 (Z(max) = 6.51). Analysis of recombination events identified D2S2370 and D2S1776 as flanking markers, on chromosome 2q31-32. This defines a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on chromosome 2q31-32, supporting our linkage results. Identification of the primary erythermalgia gene will allow a better clinical classification of this pleomorphic group of disorders. |
| |
|
Language
|
|
|
|
English
| |
|
Source (journal)
|
|
|
|
The American journal of human genetics / American Society of Human Genetics [Bethesda, Md] - New York, N.Y., 1949, currens
| |
|
Publication
|
|
|
|
New York, N.Y.
:
2001
| |
|
ISSN
|
|
|
|
0002-9297
[print]
1537-6605
[online]
| |
|
Volume/pages
|
|
|
|
68
:5
(2001)
, p. 1277-1282
| |
|
ISI
|
|
|
|
000168171200021
| |
|
Full text (Publisher's DOI)
|
|
|
|
| |
|
Full text (open access)
|
|
|
|
| |
|