Method for molecular diagnosis of hereditary methemoglobinemia
- VernacularTitle:遗传性高铁血红蛋白血症分子诊断方法的研究
- Author:
Dezhu ZHENG
;
Fenghua LAN
;
Fei XIE
;
Yushui WU
;
Zhongyong ZHU
- Publication Type:Journal Article
- Keywords:
Methemoglobinemia;
Cytochrome b5;
Reductase
- From:
Chinese Journal of Laboratory Medicine
2003;0(07):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate molecular diagnostic method for hereditarymethemoblobinemia. Methods The cDNA coding sequence of NADH-cytochrome b5 reductase (b5R) from 3 patients with hereditary methemoglobinemia was analyzed by direct sequencing of RT-PCR products and the genomic DNA of b5R gene by PCR-restriction endonuclease digestion or PCR-sequencing. Results The b5R cDNA of patient A was T/C heterozygous at nucleotide 527 and G/A heterozygous at nucleotide 608. The b5R cDNA of patient B was G/A heterozygous at both nucleotide 170 and nucleotide 179. The b5R cDNA of patient C was G/A heterozygous at nucleotide 608 and C/T heterozygous at nucleotide 791. Result of genomic DNA analysis was in agreement with that of cDNA approach. Conclusion The method for molecular diagnosis of hereditary methemoglobinemia was established and 3 novel b5R gene mutations were identified in compound heterozygosity in 3 Chinese patients.
