Investigative ophthalmology & visual science · 2004
Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
СтатьяПоддержка исследования: вне правительства СШАНазвание 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.
Aijaz Saima, Clark Brian J, Williamson Kathleen, van Heyningen Veronica, Morrison Danny, Fitzpatrick David, Collin Richard, Ragge Nicola, Christoforou Andrea, Brown Alison, Hanson Isabel
Аннотация
PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6.
METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).
RESULTS: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.
CONCLUSIONS: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.
METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC).
RESULTS: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects.
CONCLUSIONS: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.