European journal of obstetrics, gynecology, and reproductive biology · 2004
Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism.
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.
Canto Patricia, Galicia Norma, Söderlund Daniela, Escudero Irineo, Méndez Juan Pablo
Аннотация
OBJECTIVE: To investigate the presence of mutations in the open reading frame (ORF), as well as on the 5' and 3', flanking regions of the SRY gene in patients with mixed gonadal dysgenesis (MGD) or with Turner syndrome (TS) and Y mosaicism.
STUDY DESIGN: We studied 13 patients with MGD and three patients with TS and Y mosaicism. DNA was isolated from blood leukocytes for subsequent polymerase chain reaction (PCR) and direct sequencing were performed in the ORF, as well as from the 5' and 3' flanking regions of the SRY gene.
RESULTS: No mutations were present in any of the patients studied.
CONCLUSION: The absence of mutations in these regions indicated that mutations were an unlikely cause of MGD or TS with Y mosaicism and suggested that there are others genes playing an important role in sex development.
STUDY DESIGN: We studied 13 patients with MGD and three patients with TS and Y mosaicism. DNA was isolated from blood leukocytes for subsequent polymerase chain reaction (PCR) and direct sequencing were performed in the ORF, as well as from the 5' and 3' flanking regions of the SRY gene.
RESULTS: No mutations were present in any of the patients studied.
CONCLUSION: The absence of mutations in these regions indicated that mutations were an unlikely cause of MGD or TS with Y mosaicism and suggested that there are others genes playing an important role in sex development.
Предметные рубрики MeSH
AdolescentAdultChildChild, PreschoolChromosomes, Human, YDNADNA Mutational AnalysisDNA-Binding ProteinsGonadal Dysgenesis, MixedHumansInfantLeukocytesMaleMosaicismNuclear ProteinsOpen Reading FramesPolymerase Chain ReactionSequence Analysis, DNASex-Determining Region Y ProteinTranscription FactorsTurner Syndrome