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Your search keyword '"Kelsoe, John R."' showing total 1 results
Start Over Author "Kelsoe, John R." Language chinese
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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].

Author

Song J, Wu Y, Nie F, Wang B, Li Y, Shu A, Ma Y, Zhang R, Kelsoe JR, and Ma J

Subjects
Adult, Asian People genetics, China, Female, Humans, Lod Score, Male, Microsatellite Repeats, Pedigree, Chromosomes, Human, Pair 1 genetics, Chromosomes, Human, Pair 14 genetics, Chromosomes, Human, Pair 8 genetics, Craniofacial Abnormalities genetics
Abstract

Objective: To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family., Methods: Conventional 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., Results: None 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., Conclusion: CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.

Published
2015
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