Mutations in Collagen Genes in the Context of an Isolated Population.
Adult
Aged, 80 and over
Balkan Nephropathy
/ genetics
Chromosomes, Human, Y
Collagen
/ genetics
Female
Genes, X-Linked
Genetics, Population
Haplotypes
Hematuria
/ genetics
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation
Nephritis, Hereditary
/ genetics
Pedigree
Reproductive Isolation
Republic of North Macedonia
Alport syndrome
Galičnik
benign familial hematuria
digenic inheritance
isolated population
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
20 11 2020
20 11 2020
Historique:
received:
26
10
2020
revised:
19
11
2020
accepted:
19
11
2020
entrez:
25
11
2020
pubmed:
26
11
2020
medline:
23
7
2021
Statut:
epublish
Résumé
Genetic studies of population isolates have great potential to provide a unique insight into genetic differentiation and phenotypic expressions. Galičnik village is a population isolate located in the northwest region of the Republic of North Macedonia, established around the 10th century. Alport syndrome-linked nephropathy with a complex inheritance pattern has been described historically among individuals in the village. In order to determine the genetic basis of the nephropathies and to characterize the genetic structure of the population, 23 samples were genotyped using a custom-made next generation sequencing panel and 111 samples using population genetic markers. We compared the newly obtained population data with fifteen European population data sets. NGS analysis revealed four different mutations in three different collagen genes in twelve individuals within the Galičnik population. The genetic isolation and small effective population size of Galičnik village have resulted in a high level of genomic homogeneity, with domination of R1a-M458 and R1b-U106* haplogroups. The study explains complex autosomal
Identifiants
pubmed: 33233744
pii: genes11111377
doi: 10.3390/genes11111377
pmc: PMC7699876
pii:
doi:
Substances chimiques
Collagen
9007-34-5
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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