MSUD occurs more often in Old Order Mennonite and Mennonite populations because of the smaller gene pools and higher rates of inbreeding. Even if an individual does not show the phenotype for MSUD, they could carry a mutated allele. When an asparagine to tyrosine substitution occurs in this specific region, it can cause branched-chain ketoaciduria, which is more commonly referred to as maple syrup urine disease (MSUD). This study looks at the chromosome region 6q14.1 (6 is the chromosome number, q is the lower arm of the chromosome, and 14.1 is the specific region). Base substitutions are a common cause of genetic diseases. Many diseases can be linked to genetic origins. Autosomal recessive inheritance pattern (National Library of Medicine (US), 2014)
Genetic testing and outbreeding are possible ways to combat these genetic consequences. Due to these results, it is important for Mennonites to understand the possible consequences and risks of genetic isolation. These results suggest the sampled Mennonite population is more genetically isolated than the non-Mennonite population. Of the 48 Mennonite participants, 2 were found to be carriers, yielding a carrier frequency of 4.17%, and of the 48 non-Mennonite participants, zero were found to be carriers, yielding a carrier frequency of 0%. Gels were then run to test the participants for the presence of a mutation diagnostic of MSUD. From this, PCR products and restriction enzyme digests were obtained. DNA was collected and isolated from 96 participants.
The purpose of my study is to look at the carrier frequency of MSUD in Mennonite and non-Mennonite populations. Maple syrup urine disease is an autosomal recessive genetic disease which causes maple syrup urine odor, hypoglycemia, and a failure to catabolize leucine, isoleucine, and valine. Further, mutations can be carried and passed on to offspring. Genetic disorders can be caused by many different genetic mutations, such as base substitutions, aneuploidy, or frameshifts. Many diseases are caused by genetic disorders in humans. Karina Lee Ortman graduated from Bethel College with a degree in Biology in 2015. Maple Syrup Urine Disease: A Study of Carrier Frequency in Mennonite and Non-Mennonite Populations Bethel College - Mennonite Life 2015, vol.
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