[Prenatal gene diagnosis of oculocutaneous albinism type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 23(3): 280-2, 2006 Jun.
Article
en Zh
| MEDLINE
| ID: mdl-16767664
ABSTRACT
OBJECTIVE:
Mutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).METHODS:
To define the fetus genotypes and gene mutation sites, the PCR and sequencing techniques were applied to amplify and analyze the regions of exon, exon-intron and promoter of TYR gene in probands and their parents of 2 families.RESULTS:
The patient or proband of family 1 showed as a compound heterozygote with mutants R278X and 929insC. However, the fetus did not get any one of the two mutations, and so was with a normal genotype and phenotype. The parents of proband in family 2 were heterozygous with IVS4+ 3A>T or G253E respectively, but their fetus was heterozygous only with IVS4+3A>T but without G253E, and so was a carrier as his father.CONCLUSION:
In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Albinismo Oculocutáneo
Tipo de estudio:
Diagnostic_studies
Límite:
Child, preschool
/
Female
/
Humans
/
Male
/
Pregnancy
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2006
Tipo del documento:
Article