Mutation analysis of human LEFTY A and LEFTY B genes in children with Ivemark syndrome.
The search for genes responsible for the abnormal development of the left-right (L/R) asymmetry has been conducted but no definite results have been reported. Recently, two human homologus mouse lefty1 genes, LEFTY A and LEFTY B, were analyzed for mutations in patients with the L/R anomalies. However, only two mutations were found in a survey of 126 patients. We collected genomic DNA from 10 children with Ivemark syndrome, a disease with anomalies in L/R asymmetry. Mutation analysis of LEFTY A and LEFTY B genes using single strand conformation polymorphism and direct sequencing was performed, but no mutations were found. This indicates that the L/R asymmetry anomaly in Ivemark syndrome may not be caused by the mutation of LEFTY A and LEFTY B genes. Other genes responsible for the anomalies of L/R asymmetry should be further investigated.
Chen
W C
WC
Department of Urology, China Medical College, Taichung, Taiwan.
Tsai
F J
FJ
Wu
J Y
JY
Shi
Y R
YR
Wu
H C
HC
D000015:Abnormalities, Multiple / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D055458:Left-Right Determination Factors; D009154:Mutation; D016133:Polymerase Chain Reaction; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome; D016212:Transforming Growth Factor beta / Q000235:genetics*
C526161:LEFTY1 protein, human; D055458:Left-Right Determination Factors; D016212:Transforming Growth Factor beta