Heritability of Brachydactyly Type A3 in Children, Adolescents, and Young Adults from an Endogamous Population in Eastern Nepal
| Autor: | John Blangero, Janardan Subedi, Dana L. Duren, Sarah Williams-Blangero, Audrey C. Choh, Carol R. Cottom, Sharon Lawrence, Miryoung Lee, Richard J. Sherwood, Stefan A. Czerwinski, Bradford Towne, Thomas D. Dyer, Kimberly D. Williams, Bharat Jha |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male Pediatrics medicine.medical_specialty Adolescent Population Ethnic group Finger Phalanges Nepal Prevalence Genetics Humans Medicine Young adult Child education Genetics (clinical) Ecology Evolution Behavior and Systematics Hand deformity education.field_of_study business.industry Brachydactyly Heritability medicine.disease Radiography Genetics Population Phenotype Endogamy Child Preschool Early adolescents Female business Hand Deformities Congenital Demography |
| Zdroj: | Human Biology. 79:609-622 |
| ISSN: | 1534-6617 0018-7143 |
| DOI: | 10.1353/hub.2008.0016 |
| Popis: | Brachymesophalangia-V (BMP-V), a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3). A high prevalence of BDA3 has been observed among the children of the Jirel ethnic group in eastern Nepal. As part of the Jiri Growth Study, a hand-wrist radiograph is taken annually of each child to assess skeletal development. For this study the most recent radiographs of 1,357 Jirel children, adolescents, and young adults (676 boys, 681 girls), age 3-20 years, were examined for the presence or absence of BDA3, to report the prevalence and estimate the heritability of BDA3 in the Jirel population. The overall prevalence of BDA3 in this sample was 10.5% (12.9% of the males and 8.9% of the females were classified as BDA3 affected). The additive genetic heritability of BDA3 was statistically significant in this sample (h2 +/- SE = 0.87 +/- 0.16, p < 0.0001). This study is the first to estimate the prevalence and heritability of BDA3 in a large South Asian family-based sample. |
| Databáze: | OpenAIRE |
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