[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
OBJECTIVE
To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).


METHODS
Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.


RESULTS
A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.


CONCLUSIONS
The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.
Hu
Zheng-mao
ZM
National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha 410078, China.
Xie
Zhi-guo
ZG
Wu
Ling-qian
LQ
Liang
De-sheng
DS
Zhu
Hai-yan
HY
Pan
Qian
Q
Long
Zhi-ga
ZG
Dai
He-ping
HP
Xia
Jia-hui
JH
Xia
Kun
K
D005260:Female; D000091344:Filaggrin Proteins; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics*; D008297:Male; D010375:Pedigree