Prenatal gene diagnosis of oculocutaneous albinism type I.
- Author:
Hong-yi LI
1
;
Weiq-ing WU
;
Hui ZHENG
;
Hong-lei DUAN
;
Zheng CHEN
;
Lu-ming CHEN
Author Information
- Publication Type:Case Reports
- MeSH: Albinism, Oculocutaneous; diagnosis; genetics; Child, Preschool; Family Health; Female; Humans; Male; Monophenol Monooxygenase; genetics; Mutation; Pedigree; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2006;23(3):280-282
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEMutation analysis and prenatal gene diagnosis for the mutated tyrosinase (TYR) gene in two families with oculocutaneous albinism type I (OCA1).
METHODSTo 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.
RESULTSThe 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.
CONCLUSIONIn the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.
