Research Study On Human Genes And Expression Patterns Essay

738 Words Nov 14th, 2016 3 Pages
Introduction: Nonsyndromic or isolated cleft lip, with or without palate (CL/P) occurs in approximately 1/700 worldwide. While trying to identify, the genes involved, scientists have used association and linkage approach to determine genetic contribution. The use of animal genes and expression patterns is a common strategy. Sample sizes need to be very large in order to detect what effect the very small gene had. Use of direct sequencing of the gene MSX1 suggest that point mutations underlie 2% of CL/P cases. Missense mutations are point mutations in which a mistranslated nucleotide will result in a different amino acid. A remarkable mutation, isodisomy, has also been seen in CL/P. This is where both pairs of chromosomes, in a single gene, are from only one parent.
Reason to Research: To understand the causes of CL/P. In this study researchers show the results of sequencing 20 different genes in 186 CL/P cases. The cases that were selected were cases where the family had a positive history for CL/P and an emphasis was placed on cases were the phenotype was more severe.
Materials and Methods: CL/P cases were collected from two different locations. 93 were selected from Iowa, United States and 91 cases were selected from the Philippines. These were used to search for mutations in 20 candidate genes.
Scientists selected the more-severe cases that was available to them. Sequenced samples were enriched by bilateral cleft lip and palate cases with a positive family…

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