MLPA Technique Have Highly Clinical Utility for the Genetic Diagnosis of FAP

Abstract

Familial Adenomatous Polyposis （FAP） had been thought to be an autosomal dominant inheritance disorder. But, recently researchers indicate that some FAP-patients have an autosomal recessive inheritance manner due to biallelic alterations of MYH gene. This finding have increased the significance of a genetic diagnosis in genetic counseling for FAP. Especially, identification of genetic mutations in FAP-patients without family history is so important to clarify the inheritance mode. A conventional DNA direct sequencing method could not detect pathogenic mutations of patients in approximately 20% of actual FAP-families. A novel technique, multiplex ligation-dependent probe amplification （MLPA）, will be expected contribution for the improvement of the detection rate, and will have highly clinical utility.