[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris].
To localize the pathogenic genes of autosomal dominant ichthyosis vulgaris, we ascertained two ichthyosis vulgaris families from Hunan Province. Venous blood samples were collected from affected and unaffected family members and genomic DNA was extracted. We then performed genome scan and linkage analysis using microsatellite markers around known ichthyosis vulgaris loci in chromosomes 1 and 10. In family 1, the locus linked to ichthyosis vulgaris was located near D1S498 (1q21), which overlapped with known ichthyosis vulgaris loci. In family 2, however, all known loci for ichthyosis vulgaris were excluded and the new locus remains to be identified.
Gong
Hui-Yong
HY
National Laboratory of Medical Genetics, Central South University, Changsha 410078, China. gonghuiyong@cnlmg.com
Zhang
Jing
J
Hu
Zheng-Mao
ZM
Wu
Ling-Qian
LQ
Liang
De-Sheng
DS
Xie
Zhi-Guo
ZG
Pan
Qian
Q
Bu
Feng-Xiao
FX
Peng
Yu
Y
Xia
Kun
K
Xia
Jia-Hui
JH
D002874:Chromosome Mapping / Q000379:methods*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree