Genetic study of a pedigree affected with oculodentodigital dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1191-1194, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-781319
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.@*METHODS@#Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.@*RESULTS@#Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).@*CONCLUSION@#The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Tooth Abnormalities
/
Foot Deformities, Congenital
/
Eye Abnormalities
/
Connexin 43
/
Syndactyly
/
Craniofacial Abnormalities
/
Genetics
/
Mutation
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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