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Genetic origins in a South American clefting population

Vieira, AR and Karras, JC and Orioli, IM and Castilla, EE and Murray, JC (2002) Genetic origins in a South American clefting population. Clinical Genetics, 62 (6). 458 - 463. ISSN 0009-9163

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Karras, JC
Orioli, IM
Castilla, EE
Murray, JC
Date: 1 December 2002
Date Type: Publication
Journal or Publication Title: Clinical Genetics
Volume: 62
Number: 6
Page Range: 458 - 463
DOI or Unique Handle: 10.1034/j.1399-0004.2002.620606.x
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0009-9163
MeSH Headings: Chromosomes, Human, Y; Cleft Lip--ethnology; Cleft Lip--genetics; Cleft Palate--ethnology; Cleft Palate--genetics; DNA, Mitochondrial; Emigration and Immigration; Founder Effect; Genetic Markers; Genetic Variation; Humans; Inheritance Patterns; South America--ethnology
PubMed ID: 12485193
Date Deposited: 18 Sep 2012 15:01
Last Modified: 20 Feb 2020 13:55


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