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
Chinese Journal of Medical Genetics
; (6): 472-475, 2015.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-288051
Responsible library:
WPRO
ABSTRACT
<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>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 8
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Chromosomes, Human, Pair 14
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China
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Microsatellite Repeats
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Craniofacial Abnormalities
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Asian People
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Genetics
/
Lod Score
Limits:
Adult
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Female
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Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Document type:
Article