A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3

Qinghe Xing; Xiangdong Chen; Mingtai Wang; Wenjie Bai; Xin Peng; Rui Gao; Shengnan Wu; Xueqing Qian; Wei Qin; Jianjun Gao; Guoyin Feng; Lin He

doi:10.1007/s00439-005-1284-1

A locus for familial generalized lentiginosis without systemic involvement maps to chromosome 4q21.1-q22.3

Hum Genet. 2005 Jul;117(2-3):154-9. doi: 10.1007/s00439-005-1284-1. Epub 2005 Apr 20.

Authors

Qinghe Xing¹, Xiangdong Chen, Mingtai Wang, Wenjie Bai, Xin Peng, Rui Gao, Shengnan Wu, Xueqing Qian, Wei Qin, Jianjun Gao, Guoyin Feng, Lin He

Affiliation

¹ Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, Shanghai 200030, China.

PMID: 15841387
DOI: 10.1007/s00439-005-1284-1

Abstract

Generalized lentiginosis (GL) is characterized by widespread lentigines without associated noncutaneous abnormalities. In this study we performed a genome-wide linkage search in a Chinese family with GL and localized the familial GL locus to chromosome 4q21.1-q22.3, with a maximum two-point LOD score of 3.01 for D4S395 and D4S423 at a recombination fraction of 0. Multipoint analysis (maximum LOD score of 5.08 between markers D4S395 and D4S1563) and haplotype construction showed strong evidence of linkage in a region of 20 Mb flanked by markers D4S2915 and D4S1560 on chromosome 4q21.1-q22.3. This is the first report of linkage for GL, and it will provide further insight into the controversy of whether GL is an entity distinct from LEOPARD syndrome.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

China
Chromosome Mapping* / methods
Chromosomes, Human, Pair 4 / genetics*
Humans
LEOPARD Syndrome / genetics
Lentigo / genetics*
Lod Score*
Pedigree