Genetic origins in a South American clefting population

A. R VIEIRA; J. C KARRAS; I. M ORIOLI; E. E CASTILLA; J. C MURRAY

doi:10.1034/j.1399-0004.2002.620606.x

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Genetic origins in a South American clefting population

Journal article

Peer reviewed

Genetic origins in a South American clefting population

A. R VIEIRA, J. C KARRAS, I. M ORIOLI, E. E CASTILLA and J. C MURRAY

Clinical genetics, Vol.62(6), pp.458-463

2002

DOI: 10.1034/j.1399-0004.2002.620606.x

PMID: 12485193

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Abstract

It has been proposed that susceptibility to clefting in South America is related to Amerindian ancestry, where clefting is present at a higher frequency than in the other admixed populations (Caucasian and African) that make up the diverse racial mix of current South Americans. To clarify the genetic origins and establish a method for genetic mapping, mitochondrial DNA variation and Y-chromosome markers were studied in a South American population affected with clefting. Two-hundred and seventeen subjects and matched controls were selected through the Latin-American Collaborative Study of Congenital Malformations (ECLAMC). The case group showed a higher frequency of Native American haplogroups and a lower frequency of African haplogroups (p < 0.00001). In addition, the case group showed a much higher frequency of the specific native American haplogroup D than the control group (p < 0.00001). For the Y-chromosome markers, the case group showed a lower frequency of the African-specific marker, YAP (p = 0.002), and a higher frequency of the Native American-specific marker, DYS199 (p < 0.00001). Even though differences were found in the frequencies of the markers studied, the contribution of each founder population was similar for both groups. Results suggest a strong Native American maternal contribution and a strong Caucasian (Spanish and Portuguese) paternal contribution to the population studied. The implications of this finding include the possibility of using admixture mapping approaches to this population.

Tropical Medicine

Biological and medical sciences

Medical sciences

Facial bones, jaws, teeth, parodontium: diseases, semeiology

Otorhinolaryngology. Stomatology

Non tumoral diseases

Details

Title: Subtitle: Genetic origins in a South American clefting population
Creators: A. R VIEIRA - Department of Pediatrics, University of Iowa, Iowa, United States
J. C KARRAS - College of Dentistry, University of Iowa, Iowa, United States
I. M ORIOLI - ECLAMC at the Department of Genetics, Federal University of Rio de Janeiro, Brazil
E. E CASTILLA - ECLAMC at the Department of Genetics, Fiocruz, Brazil
J. C MURRAY - Department of Pediatrics, University of Iowa, Iowa, United States
Resource Type: Journal article
Publication Details: Clinical genetics, Vol.62(6), pp.458-463
DOI: 10.1034/j.1399-0004.2002.620606.x
PMID: 12485193
NLM abbreviation: Clin Genet
ISSN: 0009-9163
eISSN: 1399-0004
Publisher: Blackwell; Oxford
Language: English
Date published: 2002
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025318302771

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