[Prenatal gene diagnosis of oculocutaneous albinism type I].
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.


CONCLUSIONS
In the mainland of China, the prenatal gene diagnosis of OCA1 is reported for the first time.
Li
Hong-yi
HY
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China. tlihzh@163.com
Wu
Weiq-ing
WI
Zheng
Hui
H
Duan
Hong-lei
HL
Chen
Zheng
Z
Chen
Lu-ming
LM
D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D014442:Monophenol Monooxygenase