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

Introduction Intellectual disability (ID) is defined by the Ameri quarter Association of Intellectual Developmental Disabilities as having significant limitations both in intellectual functioning and in adaptive behavior. 1 earliest it was believed that behavioral abnormalities, such as Intellectual Disability, were have gotd 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 to a greater extent and more(prenominal) of our behavior is influenced, if not controlled, by our genes. 3This advancement is important for our catch of ID to expand. ID can occur when on that point is a mutation on wiz or more of the genes in the individuals chromosome set. 3There be divergent types of mutations autosomal mutations (mutations occurring in mavin or more of the 44 autosomal chromosomes in humans), mutations in the sex chromosomes (the two chromosomes that amongst other thing s 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 scanty 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 trait (e.g. ID), apiece shaver they have result inherit one of the two alleles (dominant or recessive) from for each one parent. Following the Mendelian laws of inheritance, such parents can get progeny that are homozygous dominant (25% chance, will not result in ID), heterozygous like themselves (50% chance, will not result in ID, only when will be carriers of the defective gene), or homozygous r... ...tations in the of import 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum constituentt. 2011 Jul 1589(1)176-82.6 Exome Sequencin g Internet. pot pull in 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 declination 74(12) 54635467. 8 involution 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 retardant 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 Earli er it was believed 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 chromosome 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 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 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