A report of a newly identified syndrome in families of the Old Order Amish showed that the lethal condition that resulted from numerous,multisystem abnormalities is inherited as an autosomal recessive.SNP-based mapping showed that a portion of a region on chromosome 6p,namely the ICK gene (intestinal cell kinase),was homozygous in all autopsied patients but heterozygous in normal members of the affected families.The mutation seems so far to be specific only to the Amish.Which of the following would be a reasonable next step in studying this mutation?

Question

Quizplus · Accepted Answer

Sequencing the ICK gene would be the best next step, as it would allow for identification of the specific mutation causing the syndrome. This information could be used to develop a gene-based carrier test and prenatal diagnosis, as well as potentially lead to a better understanding of the underlying molecular mechanisms of the syndrome. Using a microarray to determine gene expression or kinase activity assays would not provide as much insight into the specific mutation causing the syndrome.

A Report of a Newly Identified Syndrome in Families of the Old