Mutation analysis of human LEFTY A and LEFTY B genes in children with Ivemark syndrome.

Abstract

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.

• Authors: W C Chen, F J Tsai, J Y Wu, Y R Shi, H C Wu
• Journal: Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi (Acta Paediatr Taiwan) 2000 Sep-Oct Vol. 41 Issue 5 Pg. 259-62 ISSN: 1608-8115 [Print] China (Republic : 1949- )
• PMID: 11100524 (Publication Type: Journal Article)

Chemical References

• LEFTY1 protein, human
• Left-Right Determination Factors
• Transforming Growth Factor beta

Topics

• Abnormalities, Multiple (genetics)
• Heart Defects, Congenital (genetics)
• Humans
• Left-Right Determination Factors
• Mutation
• Polymerase Chain Reaction
• Spleen (abnormalities)
• Syndrome
• Transforming Growth Factor beta (genetics)