Human Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individual

Simple item page
dc.contributor.authorLee, Ling Sze
dc.date.accessioned2019-08-29T07:28:42Z
dc.date.available2019-08-29T07:28:42Z
dc.date.issued2011-02
dc.description.abstractAchondroplasia 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.en_US
dc.identifier.urihttp://hdl.handle.net/123456789/8737
dc.language.isoenen_US
dc.publisherUniversiti Sains Malaysiaen_US
dc.subjectHuman Chromosomeen_US
dc.subjectSingle Nucleotide Polymorphism (Snp)en_US
dc.titleHuman Chromosome 4 Sequencing And Single Nucleotide Polymorphism (Snp) Analysis Of An Achondroplasia Individualen_US
dc.typeThesisen_US
Files
License bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Pusat Pengajian Sains Kajihayat - Tesis