Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the candidate chromosomal region for congenital preauricular fistula (CPF) through analysis of an affected Chinese family.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>CPF features high genetic heterogeneity. The family may have a causative gene elsewhere. Whole-genome-based study is needed to identify its genetic etiology.</p>