Nur Ashikhin Gandah (2014) The study of six SNPS in LCT regulatory region and it's association to lactose intolerance in Sabah. Masters thesis, Universiti Malaysia Sabah.
![[img]](https://eprints.ums.edu.my/style/images/fileicons/text.png) |
Text
24 PAGES.pdf Download (1MB) |
|
Text
FULLTEXT.pdf Restricted to Registered users only Download (4MB) |
Abstract
Lactose intolerance is a clinical condition such as bloating, flatulence and diarrhea that affects lactase non-persistence (LNP) individuals following ingestion of lactose. LNP individuals are unable to digest lactose due to transcriptional down-regulation of lactase (LCT) gene, which results in reductionof lactase-phlorizinhyrolase (LPH) level required for lactose digestion. However, there are also individuals known as lactase persistence (LP)who retain continuous production of LPH throughout their adult life. This phenotype has been associated with the presence of six single nucleotide polymorphisms (SNPs) within particular region of MCM6 gene that regulates the promoter of LCT gene. These six SNPs (G/A-22018, G/C-14010, T/G-13915, C/G- 13907, C/T-13910 and T/C-3712) have been extensivelyused in genotype test for determination of LNP and LP in non-Asian population. To date, there is no report of these polymorphisms and its association with lactose intolerance in Malaysia. Therefore, this study was conducted to determine the presence of these SNPs and its associations with LP and LNP traits mainly in Sabah. A total of 188 subjects were diagnosed using 50 g-Hydrogen Breath Test (HBT) and Lactose Tolerance Test (LTT). Changes in breath H2 and glucose level were measured every 30 minutes interval for 3 hours test period. Subject who has increased breath H2 of > 20 ppm and blood glucose of < 1.5 mmol/L was grouped as LNP. The data showed that the distribution of LNP in Sabahwas extremely high at 94% (N=176) whereas the LP was only 6% (N=12). Whole blood samples were collected for DNA extraction using modified alkaline lysis method. Target sequences were amplified using specific primers in Polymerase Chain Reaction (PCR) and subjected to direct sequencing. The sequencing results showed that99.4% (N=176) of LNP and 83.3% (N=10) of LP carryhomozygous wild-type genotype associated with LNP as reported elsewhere (GG-22018, GG-14010, TT-13915, CC-13907, CC-13910 and TT-3712). Chi-square analysis showed no significant association (p>0.05) between these six LNP genotypes towards LNP/LP phenotype.Heterozygote CT-13910 and GA-22018 associated with LP in non-Asian population were also found in one LNP and two LP subjects. Since there was no genotype difference between LNP and LP, this study suggests that thesix SNPs associated with LNP/LP reported in non-Asian population are not suitable to be used as a genetic marker for determination of LNP/LP in Sabah.
| Item Type: | Thesis (Masters) |
|---|---|
| Keyword: | Lactase non-persistence, Lactase persistence, Lactose intolerance, Single nucleotide polymorphisms, MCM6 gene, Lactase gene, Genotyping |
| Subjects: | R Medicine > RC Internal medicine > RC31-1245 Internal medicine > RC581-951 Specialties of internal medicine > RC627.5-632 Metabolic diseases |
| Department: | FACULTY > Faculty of Science and Natural Resources |
| Depositing User: | DG MASNIAH AHMAD - |
| Date Deposited: | 13 Feb 2025 14:15 |
| Last Modified: | 13 Feb 2025 14:15 |
| URI: | https://eprints.ums.edu.my/id/eprint/42790 |
Actions (login required)
 |
View Item |