Analysis of HFE and Non-HFE Mutations in a Tibet Cohort with Iron Overload / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 618-622, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-771910
ABSTRACT
OBJECTIVE@#The explore the molecular basis of iron-overload in Tibet nationality population of Tibet.@*METHODS@#The inpatients with iron-overload in our department from Dec. 1st 2014 to Jul.31st 2016 were enrolled in this study. Abdominal MRI and the mutation sites C282Y and H63D in HFE exon were examined. For HFE mutation-negative patients, the non-HFE mutation was detected, including 5 HJV mutations of G320V, p.Q312X, p.D249H, p.I281T, p.C321X and 2 TFR2 mutations (Y250X, I238M), and 2 SLC40A1 mutations (V162del, N144H).@*RESULTS@#Among 113 iron overload patients, only one showed homozygous p.H63D mutation, and one showed heterozygosis p.H63D mutation. In 73 patients accepted non-HFE gene detection, only one was heterozygosis p.D249N mutation in HJV, and one was heterozygosis p.I238M mutation in TFR2.@*CONCLUSION@#Currently, the pathogenic gene for Tibetan iron-overload has not yet been found.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Antígenos de Histocompatibilidade Classe I
/
Tibet
/
Sobrecarga de Ferro
/
Proteína da Hemocromatose
/
Genótipo
/
Mutação
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2019
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS