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Genetic origins in a South American clefting population
Author(s) -
Vieira AR,
Karras JC,
Orioli IM,
Castilla EE,
Murray JC
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.620606.x
Subject(s) - genetics , population , biology , medicine , environmental health
Vieira AR, Karras JC, Orioli IM, Castilla EE, Murray JC. Genetic origins in a South American clefting population.
Clin Genet 2002: 62: 458–463. © Blackwell Munksgaard, 2002 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.