Mutations in the Alpha 1,2-Mannosidase Gene Essay -- Scientific Resear

Introduction Intellectual disability (ID) is define by the American Association of Intellectual Develop moral Disabilities as having material limitations both(prenominal) in intellectual functioning and in adaptive carriage. 1 precedent it was believed that behavioral abnormalities, such as Intellectual Disability, were caused by the loving or environmental environment in which the single lived in.2 However, with the breakthrough of the genetic analysis, it has been shown that much and more of our behavior is influenced, if not controlled, by our genes. 3This advancement is fundamental for our cause of ID to expand. ID can occur when there is a mutation on star or more of the genes in the individuals chromosome set. 3There argon divergent types of mutations autosomal mutations (mutations occurring in ace or more of the 44 autosomal chromosomes in humans), mutations in the sex chromosomes (the 2 chromosomes that amongst other things determine the individuals sex ), and there are also chromosomal disorders such as nondisjunction in where one of the two homologous chromosomes fails to separate from its sister chromatid during mobile phone division, issuanceing in an extra chromosome in one daughter cell and one slight chromosome in the other. 3 For parents that are carriers (heterozygous) of an allele that codes for an autosomal recessive indication (e.g. ID), to each one child they have will inherit one of the two alleles (dominant or recessive) from each parent. Following the Mendelian laws of inheritance, such parents can watch military issue that are homozygous dominant (25% chance, will not result in ID), heterozygous like themselves (50% chance, will not result in ID, notwithstanding will be carriers of the defective gene), or homozygous r... ...tations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 1589(1)176-82.6 Exome Sequencing Internet. kettle o f fish View CA Centrillion, 2011 cited 2012 Feb 18. Available from http//www.centrillionbio.com/exome.php 7 Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 celestial latitude 74(12) 54635467. 8 MeSH Browser Internet. Stockholm Karolinska Institutet Universitetsbiblioteket 2008 updated 2011 cited 2012 Feb 20. Available from http//mesh.kib.ki.se/swemesh/swemesh_se.cfm.Leonard H, Wen X. The epidemiology of mental deceleration Challenges and opportunities in the new millenium. Ment. Retard. Dev. Disabil. Res. Rev., 8 (2002), pp. 117134. Corresponding author Helen Leonard (hleonardcyllene.uwa.edu Mutations in the alpha 1,2-Mannosidase Gene Essay -- Scientific ResearIntroduction Intellectual disability (ID) is defined by the American Association of Intellectual Developmental Disabilities as having significant limitations both in intellectual functioning and in adaptive behavior. 1 Earlier it was be lieved that behavioral abnormalities, such as Intellectual Disability, were caused by the social or environmental environment in which the individual lived in.2 However, with the breakthrough of the genetic analysis, it has been shown that more and more of our behavior is influenced, if not controlled, by our genes. 3This advancement is important for our understanding of ID to expand. ID can occur when there is a mutation on one or more of the genes in the individuals chromosome set. 3There are different types of mutations autosomal mutations (mutations occurring in one or more of the 44 autosomal chromosomes in humans), mutations in the sex chromosomes (the two chromosomes that amongst other things determine the individuals sex), and there are also chromosomal disorders such as nondisjunction in where one of the two homologous chromosomes fails to separate from its sister chromatid during cell division, resulting in an extra chromosome in one daughter cell and one less chromos ome in the other. 3 For parents that are carriers (heterozygous) of an allele that codes for an autosomal recessive trait (e.g. ID), each child they have will inherit one of the two alleles (dominant or recessive) from each parent. Following the Mendelian laws of inheritance, such parents can get offspring that are homozygous dominant (25% chance, will not result in ID), heterozygous like themselves (50% chance, will not result in ID, but will be carriers of the defective gene), or homozygous r... ...tations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet. 2011 Jul 1589(1)176-82.6 Exome Sequencing Internet. Mountain View CA Centrillion, 2011 cited 2012 Feb 18. Available from http//www.centrillionbio.com/exome.php 7 Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci U S A. 1977 December 74(12) 54635467. 8 MeSH Browser Internet. Stockholm Karolinska Institutet U niversitetsbiblioteket 2008 updated 2011 cited 2012 Feb 20. Available from http//mesh.kib.ki.se/swemesh/swemesh_se.cfm.Leonard H, Wen X. The epidemiology of mental retardation Challenges and opportunities in the new millenium. Ment. Retard. Dev. Disabil. Res. Rev., 8 (2002), pp. 117134. Corresponding author Helen Leonard (hleonardcyllene.uwa.edu