NDLI: A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2

Content Provider	Springer Nature Link
Author	Yang, Yongjia Guo, Jihong Liu, Zheng Tang, Siyuan Li, Ningdong Yang, Mengrong Pang, Qiong Fan, Feiyue Bu, Juan Yuan, Song Tao Xiao, Xiangjun Chen, Yuxiang Zhao, Kanxing
Copyright Year	2006
Abstract	Accessory auricular anomaly is a small excrescence of skin that contains elastic cartilage on different regions of the helix and the face. Previous work has shown that the genetic trait of some patients with the isolated symptom of accessory auricular anomaly is autosomal dominant. To map the gene for autosomal dominant accessory auricular anomaly (ADAAA), we investigated a Chinese family with 11 affected individuals. We performed linkage analysis with microsatellite markers spanning the whole human-genome in the family. The inheritance pattern of the ADAAA family was autosomal dominant with complete penetrance. Two-point linkage analysis revealed significant maximum LOD scores of 4.20(D14S990 and D14S264, sita = 0) in the family. Haplotype construction and multipoint linkage analysis also confirmed the locus and defined the isolated ADAAA locus to a 9.84 cM interval between the markers D14S283 and D14S297. Our study assigned an isolated ADAAA locus to 14q11.2–q12. This is the first ADAAA locus reported to date.
Starting Page	144
Ending Page	147
Page Count	4
File Format	PDF
ISSN	03406717
Journal	Human Genetics
Volume Number	120
Issue Number	1
e-ISSN	14321203
Language	English
Publisher	Springer-Verlag
Publisher Date	2006-06-15
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Metabolic Diseases Internal Medicine Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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