Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.

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Wu YS, Huang CH, Wan Y, Huang QJ, Zhu ZY

Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I.

Br J Haematol. 1998 Jul;102(2):575-7.

PubMed ID
9695975 [ View in PubMed
]
Abstract

Utilizing polymerase chain reaction (PCR) related technology, we investigated the b5R gene of a Chinese patient with hereditary methaemoglobinaemia type I and found a novel missense mutation (CTC-CCC) at codon 72 in exon 3 of the gene. As the mutation generates an Apa I recognition site, homozygosity for the mutation was confirmed by restriction analysis of PCR-amplified fragments from the patient's genomic DNA. We predicted that the residue replacement of Leu with Pro of the mutant enzyme would account for the b5R deficiency in the patient. The results further confirm the genetic polymorphism of b5R gene mutations found in the RCM type I.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
NADH-cytochrome b5 reductase 3P00387Details