Mutations in Collagen Genes in the Context of an Isolated Population
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 sy...
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| Format: | Article |
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MDPI AG
2020-11-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/11/1377 |
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| author | Andrej Zupan Alenka Matjašič Gašper Grubelnik Velibor Tasić Ana Momirovska |
| author_facet | Andrej Zupan Alenka Matjašič Gašper Grubelnik Velibor Tasić Ana Momirovska |
| author_sort | Andrej Zupan |
| collection | DOAJ |
| description | 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 <i>in cis</i> digenic and X-linked inheritance patterns of nephropathy in the isolated population of Galičnik and describes the first case of Alport syndrome family with three different collagen gene mutations. |
| first_indexed | 2024-03-10T14:42:17Z |
| format | Article |
| id | doaj.art-bba308fe0761464ba47c5ff4b974b37f |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T14:42:17Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-bba308fe0761464ba47c5ff4b974b37f2023-11-20T21:44:55ZengMDPI AGGenes2073-44252020-11-011111137710.3390/genes11111377Mutations in Collagen Genes in the Context of an Isolated PopulationAndrej Zupan0Alenka Matjašič1Gašper Grubelnik2Velibor Tasić3Ana Momirovska4Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, SloveniaInstitute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, SloveniaInstitute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000 Ljubljana, SloveniaUniversity Children’s Hospital, Mother Theresa 17 St., 1000 Skopje, North MacedoniaSynlab Laboratories, Pariska 24, 1000 Skopje, North MacedoniaGenetic 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 <i>in cis</i> digenic and X-linked inheritance patterns of nephropathy in the isolated population of Galičnik and describes the first case of Alport syndrome family with three different collagen gene mutations.https://www.mdpi.com/2073-4425/11/11/1377Alport syndromebenign familial hematuriadigenic inheritanceisolated populationGaličnik |
| spellingShingle | Andrej Zupan Alenka Matjašič Gašper Grubelnik Velibor Tasić Ana Momirovska Mutations in Collagen Genes in the Context of an Isolated Population Genes Alport syndrome benign familial hematuria digenic inheritance isolated population Galičnik |
| title | Mutations in Collagen Genes in the Context of an Isolated Population |
| title_full | Mutations in Collagen Genes in the Context of an Isolated Population |
| title_fullStr | Mutations in Collagen Genes in the Context of an Isolated Population |
| title_full_unstemmed | Mutations in Collagen Genes in the Context of an Isolated Population |
| title_short | Mutations in Collagen Genes in the Context of an Isolated Population |
| title_sort | mutations in collagen genes in the context of an isolated population |
| topic | Alport syndrome benign familial hematuria digenic inheritance isolated population Galičnik |
| url | https://www.mdpi.com/2073-4425/11/11/1377 |
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