Revista medica de Chile · 2015
[Association between NAT2 polymorphisms with non-syndromic cleft lip with or without cleft palate in Argentina].
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Santos María Rita, Ramallo Virginia, Muzzio Marina, Camelo Jorge S López, Bailliet Graciela
Аннотация
BACKGROUND: NAT genes are considered candidate genes for the genetic predisposition to non-syndromic Cleft lip with or without cleft palate (NSCLP), since they codify for N-acetyltransferases, enzymes responsible for the biotransformation of arylamines, hydrazine drugs, and a great number of toxins and carcinogens present in diet, cigarette smoke, and environment.
AIM: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP.
MATERIAL AND METHODS: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT).
RESULTS: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03).
CONCLUSIONS: The presence of *5 allele is significantly higher in cases with congenital NSCLP.
AIM: To determine the association between alleles determining slow acetylator phenotype and the risk of NSCLP.
MATERIAL AND METHODS: We analyzed *5 (481C>T), *6 (590G>A) and *7 (857G>A) alleles which determine the slow acetylator phenotype and *4 (wild type) allele by polymerase chain reaction/restriction fragment length polymorphism in 97 progenitor-case trios of NSCLP in Argentinian Obstetric Wards. We evaluated the transmission disequilibrium (TDT).
RESULTS: TDT showed a positive association between allele *5 and NSCLP (odds ratio = 1,6; p = 0,03).
CONCLUSIONS: The presence of *5 allele is significantly higher in cases with congenital NSCLP.