MOLECULAR GENETIC ANALYSIS OF GLA GENE CAUSING INHERITED FABRY DISEASE FOR POPULATION OF AZERBAIJAN REPUBLIC
| Main Author: | Narmin Salayeva |
|---|---|
| Format: | Article |
| Bahasa: | eng |
| Terbitan: |
, 2020
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| Subjects: | |
| Online Access: |
https://zenodo.org/record/3907024 |
Daftar Isi:
- For the first time in Lenkoran-Astara administrative area of Azerbaijan Republic, patients with cardiomiopathies were genetically screened for Fabry metabolic disease. Screening was carried out by means of identification of α-galactosidase enzyme activity and quantity of globotriasylsphingosine. In 12 out of 29 examined persons we got activity deficit of α-galactosidase enzyme, and amount of globotriasylsphingosine was higher than the norm which were specific for Fabry disease.In 8 women manifested X-linked inheritance type as heterozygotes for Fabry disease, and 4 men were identified as hemizygotes. Molecular genetic analysis identified two different mutations of GLA gene: 801+3A>G mutation in intron 5 and, substitution of Adenine nucleotide with Guanine nucleotide in position 137 (137,A>G) of GLA gene. To prevent Fabry disease it is recommended toscreen affected persons’ family members for α-galactosidase enzyme activities.