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- Title
SMA Genetics and Genetic Counseling.
- Authors
Temel, Şehime Gülsün; Ergören, Mahmut Çerkez
- Abstract
Spinal muscular atrhopy (SMA) is a rare autosomal recessive neuromuscular, where one out of each 10,000 live births can be affected by this syndrome. The atrophy is caused by the gradual loss of alpha motor neurons, either within the ventral spinal cord or motor nuclei within the lower brainstem. In this study, we aimed to evaluate the carrier frequency of SMN1 mutation causing SMA in Turkish and Turkish Cypriot populations. This is the first study to evaluate the SMN1 deletion mutations in Turkish Cypriot population. We compare our results with the Turkish Ministry of Health and will be presented at the conference. Our findings revealed that the carrier frequency of mutation in the SMN1 gene for exon 7 is 2% and exon 8 is 2% in Turkish population and 4% in Turkish Cypriot for both exon 7 and exon 8 deletions. In conclusion, health precautions must be taken due to the high frequency of SMA linked to the deletion of the SMN1 gene. Carrier testing as a technique for genetic counselling may be advantageous for individuals with a positive family history. To this population, we strongly recommend premarital testing.
- Subjects
GENETIC counseling; TURKS; GENETICS; TURKISH Cypriots; MOTOR neurons
- Publication
Gazi Medical Journal, 2024, Vol 35, p9
- ISSN
1300-056X
- Publication type
Article