Molecular vision · 2004
Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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.
Sundaresan Periasamy, Sil Asim Kumar, Philp Alisdair R, Randolph Mary A, Natchiar Govindappa, Namperumalsamy Perumalsamy
Аннотация
PURPOSE: Oculocutaneous albinism type 1 (OCA1) patients demonstrate a partial or total lack of melanin in the skin, hair and eye. OCA1 is an autosomal recessive genetic disorder caused by mutations in the TYR gene located at chromosome band 11q14-q25. The purpose of this study was to carry out genetic analysis of OCA1 in Indian families.
METHODS: Genomic DNA was isolated from blood leukocytes of all the individuals in this study. Haplotype analysis was performed at the TYR locus using informative microsatellite markers. Eight sets of primers were used to amplify the entire coding region of the TYR gene for bidirectional direct sequencing mutation analysis.
RESULTS: Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
CONCLUSIONS: Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population. These findings will contribute to the development of a diagnostic method for OCA1 carrier status and genetic counseling for OCA1 affected families.
METHODS: Genomic DNA was isolated from blood leukocytes of all the individuals in this study. Haplotype analysis was performed at the TYR locus using informative microsatellite markers. Eight sets of primers were used to amplify the entire coding region of the TYR gene for bidirectional direct sequencing mutation analysis.
RESULTS: Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India.
CONCLUSIONS: Our study reports the distribution of two novel frameshift and a previously reported nonsense mutations in four OCA1 families from the Indian population. These findings will contribute to the development of a diagnostic method for OCA1 carrier status and genetic counseling for OCA1 affected families.