| Segregation analysis of cleft lip with or without cleft palate in the First Nations (Amerindian) people of British Columbia and review of isolated cleft palate etiologies. | |
| | |
MedLine Citation:
|
PMID: 19215020 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
BACKGROUND: The First Nations (Amerindian) population of British Columbia, Canada, has the highest reported birth prevalence in the world of cleft lip with or without cleft palate (CL/P) at nearly 3 per 1000 births. In addition, a substantial proportion of cleft palate only (CPO) cases in this population has been reported to be X-linked. The aims of this study were to perform complex segregation analysis to investigate the mode of inheritance of CL/P in the First Nations people of British Columbia and to review the etiology of the CPO cases. METHODS: All First Nations children born in British Columbia between 1952 and 1971 with an orofacial cleft were included in the study. Multiple sources of ascertainment were used, so that nearly 100% of live births were identified and included during this time. No stillbirths were found but would likely have been ascertained. Extended pedigrees were constructed from these probands and examination of immediate family members, e.g., parents and siblings, was done wherever possible. Complex segregation analysis included all family members. In addition, a CPO case review was conducted. RESULTS: Complex segregation analysis supports the hypothesis that the most likely mode of inheritance of CL/P in this population is a mixed model; that is, an autosomal major gene with polygenic component. The review of 26 CPO cases showed that a substantial proportion are syndromic. |
| | |
Authors:
|
R Brian Lowry; Candice Y Johnson; France Gagnon; Julian Little |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Birth defects research. Part A, Clinical and molecular teratology Volume: 85 ISSN: 1542-0760 ISO Abbreviation: Birth Defects Res. Part A Clin. Mol. Teratol. Publication Date: 2009 Jun |
Date Detail:
|
Created Date: 2009-06-15 Completed Date: 2009-08-18 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 101155107 Medline TA: Birth Defects Res A Clin Mol Teratol Country: United States |
Other Details:
|
Languages: eng Pagination: 568-73 Citation Subset: IM |
Affiliation:
|
Department of Clinical Genetics, Alberta Children's Hospital, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada. brian.lowry@calgaryhealthregion.ca |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
British Columbia
/
epidemiology,
ethnology Cleft Lip / epidemiology, genetics* Cleft Palate / epidemiology, genetics* Female Follow-Up Studies Genetic Diseases, X-Linked / epidemiology, genetics* Humans Indians, North American / ethnology, genetics* Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Compulsive prayer and its management.
Next Document: Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina ...