Background: Lactose intolerance (LI) is an inability or reduced ability to produce the enzyme lactase. This disorder causes discomfort like stomach pain and/or diarrhea. The most common cause of LI for adults is a mutation in the MCM6 gene, a single nucleotide polymorphism at C/T-13910. Haemochromatosis (HH) is a hereditary disease that causes more iron uptake from food than normal, which leads to more iron circulating in the blood and causing more iron to be stored in the liver. About 90% of HH patients are homozygous for C282Y and there is a connection between compound heterozygous for C282Y and H63D and potential development of HH. In this study, two different methods were used and compared to analyze the gene for LI (LCT) and the gene for HH (HFE). An extraction-free method by LaCAR and a DNA extraction In-house method done at Sundsvalls hospital Sweden. Method: Genotyping for LCT and HFE was done by polymerase chain reaction (PCR) technique on DNA extracted from whole blood (EDTA samples). Results: All the blood samples gave the same genotype on both methods. One LI sample had an extra curve at T/G-13915, which was detected by the LaCAR method but not the in-house method. One HH sample had a different C curve at 187, which was detected by both methods. Conclusion: The LaCAR method was identified as a good alternative for the analysis of LCT and HFE genotypes. It was able to detect additional mutations in the MCM6 gene for LCT analysis and has a shorter run time.
| Identifer | oai:union.ndltd.org:UPSALLA1/oai:DiVA.org:uu-532066 |
| Date | January 2024 |
| Creators | Hämäläinen, Mattias |
| Publisher | Uppsala universitet, Klinisk kemi |
| Source Sets | DiVA Archive at Upsalla University |
| Language | Swedish |
| Detected Language | English |
| Type | Student thesis, info:eu-repo/semantics/bachelorThesis, text |
| Format | application/pdf |
| Rights | info:eu-repo/semantics/openAccess |
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