Genetic analysis and genotype-phenotype studies in Taiwanese patients with oculocutaneous albinism:he importance of molecular genetic testing
Date Issued
2009
Date
2009
Author(s)
Lu, Hsiao-Yin
Abstract
The term albinism is applied to define a group of inherited abnormalities of melanin synthesis. The reduction in melanin synthesis can be generalized and involve all melanocytes (including skin, hair follicles, eye etc.), resulting in oculocutaneous albinism (OCA). Classical OCA featured white hair, white skin, and blue eyes, and absence of the ability to tan in the lifelong. In clinical, at least four types of OCA had been categorized. All four types of OCA are inherited as autosomal recessive disorders, and the prevalence rate is between 1/15,000- 1/20,000. At least four genes are responsible for the different types of OCA (TYR, OCA2, TYRP1 and MATP). Due to the overlapping of the clinical manifestations between the OCA subtypes, molecular diagnosis will be helpful in this issue and further genetic counseling.n this study, 86 individuals including 37 affected individuals diagnosed as OCA clinically and their family members were tested by molecular genetic analysis. Strategy with coupling denaturing high-performance liquid chromatography (DHPLC) and automated sequencing analysis was performed for TYR, P and MATP genes. Both Gap PCR and gene dosage analysis by Multiplex PCR strategies were used to detect the possible rearrangement in P gene. he result revealed 24 patients were identified as a compound heterozygous or homozygous mutation and 2 patients only one mutation was identified in the TYR gene. In the P gene, 7 patients were identified as a compound heterozygous or homozygous mutation and 3 patients only one mutation was identified. No mutation was identified in the MATP gene. However, the total of 37 patients, 26 (26/37) patients had mutation in the TYR gene, 10 (10/37) patients had mutation in the P gene, and only one patient was not identified any pathologic mutation in TYR, P or MATP gene. Due to albinism is an incurable and irreversible disease, the families with increased risk for an affected child may seek for genetic counseling and possible prenatal genetic testing. In this study, we had established a reliable, efficient molecular diagnostic platform and mutation database for patients with OCA in Taiwan. However, further studies are still warrant to elucidate the genotype – phenotype correlation in OCA.
Subjects
Oculocutaneous albinism (OCA)
TYR gene
P gene
MATP gene
Molecular diagnosis
Molecular genetic testing
Genetic counseling
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