Novel Cenpj Mutation Causes Seckel Syndrome

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Preclass 18 Novel CENPJ mutation causes Seckel syndrome 1. How was the reading experience? Provide examples from the reading experience. The reading experience for this paper was straighter forward compared to the previous reading and the material became easier to comprehend after going through it again. Knowing more about the functions CENPJ and how it relates to Seckel syndrome and microcephaly in humans makes the material easier to understand. 2. Write at least 3 terms used in the paper that you needed to research. Karyotype: test to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells Consensus sequence: the calculated order of most frequent residues, either nucleotide or amino acid, found at each position in a sequence alignment. Logarithm of odds score: Logarithm of the ratio of the probability of obtaining a set of observations, assuming a specified degree of linkage, to the probability of obtaining the same set of observations with independent assortment; used to assess the likelihood of linkage between genes from pedigree data. 3. Identify the most significant figure and explain why it is the most significant. The most important figure in the paper is Table 1. The table shows how mutations of CENPJ result in not only microcephaly but also Seckel syndrome. 4. Write in 150 words of a clear, concise, and cohesive paragraph about the paper. Mutation of PCNT was found to not cause the primordial dwarfism Seckel syndrome in this family. If PCNT is not responsible for causingSeckel syndrome in this family, what are the genetic mutations that are? It is hypothesized that this family has a mutation in a novel Seckel syndrome gene. The hypothesis was tested with Clinical evaluation, linkage analysis, homozygosity mapping, and mutation analysis. Only one block of homozygosity overlapped between the affected

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