rs45471299

Though individually rare, Mendelian diseases are estimated to affect around 25 million Americans; less than half of these disorders have known genetic causes. In my dissertation, I aimed to better understand the distribution and characteristics of recessive disease mutations and to identify genes that result in a recessive lethal phenotype early in pregnancy. These studies were conducted in the Hutterites, a founder population of European descent. I first used a novel haplotype-based approach to determine the carrier frequency for the mutation causing Spinal Muscular Atrophy in the Hutterites, as the standard technique for testing for this deletion is relatively complex and difficult to conduct. The carrier frequency for SMA was more than four times higher than carrier frequencies in other populations, which led us to question whether the founder effect alone could explain this high frequency. This question was investigated more broadly in a study of 14 autosomal recessive mutations that are segregating in the Hutterite population.

2012 · Jessica X. Chong