[Leu 72 Pro mutation in the NADH-cytochrome b5 reductase gene found in a Chinese hereditary methemoglobinemia patient].
OBJECTIVE
To characterize the mutation in NADH-cytochrome b5 reductase gene in a Chinese hereditary methemoglobinemia patient, and elucidate the molecular basis of the disease.


METHODS
B5R gene from a propositus was analyzed by sequencing the RT-PCR products as well as cDNA clones; and the results were further confirmed by restriction enzyme analysis of the genomic DNA fragments.


RESULTS
A novel mutation was found at codon 72 of b5R gene from the propositus.


CONCLUSIONS
Replacement of Leu with Pro at codon 72 of b5R gene is the molecular basis of the propositus; and the mutant allele located in 5' part of b5R gene mainly cause hereditary methemoglobinemia type I.
Center for Medical Laboratory, Fuzhou Military General Hospital, Fuzhou 350001.
Y
Y
Wu
C
C
Huang
Z
Z
Zhu
D002675:Child, Preschool; D003579:Cytochrome Reductases / Q000235:genetics*; D042966:Cytochrome-B(5) Reductase; D005260:Female; D006801:Humans; D008708:Methemoglobinemia / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation
D003579:Cytochrome Reductases; D042966:Cytochrome-B(5) Reductase