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A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
A cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence, and reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lact enzyme persistence status, at least for people with non-European ancestry.
Multiple Rare Variants as a Cause of a Common Phenotype: Several Different Lactase Persistence Associated Alleles in a Single Ethnic Group
A cohort of 107 milk-drinking Somali camel-herders from Ethiopia is examined, showing that increased diversity can accompany selection, and contrasts with the well-documented observation that positive selection decreases diversity by driving up the frequency of a single advantageous allele.
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions
Pathogenic and likely pathogenic NOTCH1 genetic variants explain 2% of familial and <0.1% of sporadic BAV disease and are more likely to associate with tetralogy of Fallot and hypoplastic left heart.
Polymorphisms in Exon 13 of Angiotensin-Converting Enzyme Gene among Hypertensive Patients in Sudan
- R. Osman, D. A. Hassan, M. Elamin, M. Elamin, D. Mursi, M. Salih
- BiologyEuropean Journal of Medical and Health Sciences
- 2 March 2022
The results of this study suggest that the 3 SNPs within exon 13 of the ACE gene (rs4316, rs4319 and rs4320) could be genetic markers for developing hypertension as evidenced by the high LD and MAF observed in hypertensive participants.