1.Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula.
Jianwen SONG ; Yi WU ; Fayi NIE ; Biyuan WANG ; Yue LI ; Anli SHU ; Yanling MA ; Rui ZHANG ; John R KELSOE ; Jie MA
Chinese Journal of Medical Genetics 2015;32(4):472-475
OBJECTIVETo identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.
METHODSConventional linkage analysis using short tandem repeats (STR) markers was performed to investigate three chromosomal regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q31.3.
RESULTSNone of 16 STRs could attain a LOD score of more than -2.0 (theta=0). Therefore, the three regions were all excluded as the candidate region for the disease.
CONCLUSIONCPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.
Adult ; Asian Continental Ancestry Group ; genetics ; China ; Chromosomes, Human, Pair 1 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Craniofacial Abnormalities ; genetics ; Female ; Humans ; Lod Score ; Male ; Microsatellite Repeats ; Pedigree
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