التفاصيل البيبلوغرافية
| العنوان: |
A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2–q12. |
| المؤلفون: |
Yongjia Yang, Jihong Guo, Zheng Liu, Siyuan Tang, Ningdong Li, Mengrong Yang, Qiong Pang, Feiyue Fan, Juan Bu, Song Tao Yuan, Xiangjun Xiao, Yuxiang Chen, Kanxing Zhao |
| المصدر: |
Human Genetics; Aug2006, Vol. 120 Issue 1, p144-147, 4p, 1 Color Photograph, 1 Diagram, 1 Chart, 1 Graph |
| مصطلحات موضوعية: |
HUMAN genetics, HUMAN genome, HUMAN heredity, GENETIC markers, CARTILAGE, CONNECTIVE tissues |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
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