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Abstract:
To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.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.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.CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.
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Chinese journal of medical genetics
ISSN: 1003-9406
Year: 2015
Issue: 4
Volume: 32
Page: 472-5
Cited Count:
WoS CC Cited Count: 0
SCOPUS Cited Count: 1
ESI Highly Cited Papers on the List: 0 Unfold All
WanFang Cited Count: -1
Chinese Cited Count: -1
30 Days PV: 1
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