Your browser doesn't support javascript.
loading
Genetic analysis of one family with congenital limb malformations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 890-892, 2019.
Article Dans Chinois | WPRIM | ID: wpr-776782
ABSTRACT
OBJECTIVE@#To detect potential mutation in a Chinese pedigree affected with congenital limb malformations.@*METHODS@#Clinical data was collected. Genomic DNA was extracted from peripheral blood samples of family members. The zone of polarizing activity regulatory sequence (ZRS) were amplified by PCR and subjected to direct sequencing.@*RESULTS@#Among the 13 individuals in this pedigree, there were 4 PPD patients, who were characterized by varying degrees of deformity. The female patients suffered triphalangeal thumb and preaxial polydactyly, while the male patients only had preaxial polydactyly. Only one patient had foot involvement. TA heterogeneous mutations was discovered in the ZRS (105C>G) in all patients, the same mutation was not detected in 2 healthy family members.@*CONCLUSION@#The inheritance pattern of PPD was autosomal dominant inheritance. There was a significant variability of symptoms among family patients. The heterozygous mutation of the ZRS (105C>G) probably underlie the disease.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Anatomopathologie / Pedigree / Pouce / Anomalies morphologiques congénitales de la main / Dépistage génétique / Polydactylie / Anomalies morphologiques congénitales des membres / Génétique / Protéines membranaires Limites du sujet: Femelle / Humains / Mâle langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article

Documents relatifs à ce sujet

MEDLINE

...
LILACS

LIS

Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Anatomopathologie / Pedigree / Pouce / Anomalies morphologiques congénitales de la main / Dépistage génétique / Polydactylie / Anomalies morphologiques congénitales des membres / Génétique / Protéines membranaires Limites du sujet: Femelle / Humains / Mâle langue: Chinois Texte intégral: Chinese Journal of Medical Genetics Année: 2019 Type: Article