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Published on: August 17, 2022
[Prenatal gene diagnosis of oculocutaneous albinism type I]
Hong-yi Li1, Weiq-ing Wu, Hui Zheng
1Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China. tlihzh@163.com
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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