Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual
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Date
2011-02
Authors
Lee, Ling Sze
Journal Title
Journal ISSN
Volume Title
Publisher
Universiti Sains Malaysia
Abstract
Achondroplasia is the most common cause of short-limbed dwarfism in
humans, affecting 250,000 individuals worldwide. This genetic disorder results in
various social and medical complications. The majority of achondroplasia cases is
sporadic and result from de novo mutations. This autosomal-dominant disorder is
caused by single nucleotide mutations in the gene encoding the type 3 receptor for
fibroblast growth factor (FGFR3). This study focused on understanding the genetic
basis of achondroplasia by identifying SNPs from flow-sorted human chromosomes
of an achondroplasia volunteer of Asian origin. Chromosome staining and the
bivariate flow karyotyping of human chromosomes were successfully optimized.
Whole Genome Amplification (WGA) was carried out to generate high-throughput
sequencing data. Thorough analysis of the sequence data and SNPs was unable to
identify any known mutations of achondroplasia and hypochondroplasia. Thus, it
indicates that the classical achondroplasia indicator gene, fgfr3, may not be the only
indicator in this particular case.
Description
Keywords
Human Chromosome , Single Nucleotide Polymorphism (Snp)