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Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele.
Hsieh, Y Y; Wu, J Y; Chang, C C; Tsai, F J; Lee, C C; Tsai, H D; Tsai, C H.
Afiliación
  • Hsieh YY; Department of Obstetrics and Gynecology, China Medical College Hospital, Taichung, Taiwan.
Prenat Diagn ; 21(3): 200-1, 2001 Mar.
Article en En | MEDLINE | ID: mdl-11260608
A pregnant woman accepted amniocentesis on account of the previous birth of type 1 oculocutaneous albinism (OCA1). PCR revealed that the fetus had two mutations (862delTT, Arg 299His). The father had one missense mutation (Arg 299Ser) and the mother had the same mutations as the fetus. Two mutations of the fetus located at the same allele were suspected. Postpartal follow-up confirmed his carrier status. For recessive disorders, faced with a fetus with two mutations, the importance of performing segregation analysis of mutation on both parents is emphasized. This could exclude two mutations located at the same allele and prevent the unnecessary termination of a fetus with carrier status.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Albinismo Oculocutáneo Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2001 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Reino Unido
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Diagnóstico Prenatal / Albinismo Oculocutáneo Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Pregnancy Idioma: En Revista: Prenat Diagn Año: 2001 Tipo del documento: Article País de afiliación: Taiwán Pais de publicación: Reino Unido