RESUMO
OBJECTIVE: To detect potential mutations in genes related with non-syndromic oculocutaneous albinism I-IV and ocular albinism type I in two couples who had given births to children with albinism. METHODS: All exons of the non-syndromic albinism related genes TYR, OCA2, TYRP-1, MITF, SLC45A2 and GPR143 were subjected to deep sequencing. The results were verified with Sanger sequencing. RESULTS: For the two female carriers, the coding region of the TYR gene was found to harbor a frameshift mutation c.925_926insC, which was also suspected to have been pathogenic. In one of the male partners, a nonsense mutations c.832C>T was found, which was also known to be pathogenic. Another male partner was found to harbor a TYR gene mutation c.346C>T, which was also known to be a pathogenic nonsense mutation. CONCLUSION: The coding region of the TYR gene c.925_926insC (p.Thr309ThrfsX9) probably underlies the OCA1 disease phenotype.
Assuntos
Albinismo Oculocutâneo/enzimologia , Albinismo Oculocutâneo/genética , Glicoproteínas de Membrana/genética , Oxirredutases/genética , Adulto , Povo Asiático/genética , Sequência de Bases , China , Éxons , Feminino , Mutação da Fase de Leitura , Humanos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , LinhagemRESUMO
OBJECTIVE: To analyze the penetrance of Leber hereditary optic neuropathy (LHON) individuals with mitochondrial DNA 11778 mutation in Shanxi. METHODS: Allele-specific PCR was used to detect mtDNA 11778 mutation in LHON patients and their families. RESULTS: In 17 families of the 30 families that harbored mtDNA 11778 mutation, only the probands were LHON patients. In the other 13 families, besides the probands, 72 maternal relatives carried mtDNA 11778 mutation. CONCLUSION: The penetrance of LHON individuals with mtDNA 11778 mutation in the Shanxi area is 55.6%.