Method for molecular diagnosis of hereditary methemoglobinemia / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12)2003.
Artículo
en Chino
| WPRIM
| ID: wpr-583936
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
Chinese Journal of Laboratory Medicine
Año:
2003
Tipo del documento:
Artículo
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