Clinical characteristics of diabetic pedigree with mtDNA 12026 A→G mutation in ND4 region / 中国糖尿病杂志
Chinese Journal of Diabetes
; (12)2000.
Article
em Zh
| WPRIM
| ID: wpr-591755
Biblioteca responsável:
WPRO
ABSTRACT
Objective To investigate clinical traits of 2 families members habouring mtDNA 12026A→G mutation based on our previous studies.Methods 25 members in 2 families with probands with mtDNA 12026 mutation were examined.All their clinical and biochemical data were collected.Total genome was extracted conventionally from peripheral leucocytes of all participants,and PCR-RFLP techniques were applied to screen A to G substitution at nucleotide 12026 of mtDNA in ND4 region.Results We found 13 individuals habouring the 12026 A→G mutation in 2 pedigrees,all without deafness.Among them,5 with diabetes were found.Interestingly,we found 3 individuals with hyperthyroidism in one family(one also combined with diabetes).Conclusions Our findings suggest that diabetic families with mtDNA 12026 A→G mutation in ND4 region can have different clinical pictures,and may involve in autoimmune diseases.
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Índice:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Diabetes
Ano de publicação:
2000
Tipo de documento:
Article