Mutations in collagen genes in the context of an isolated population

Zupan, Andrej (avtor), Matjašič, Alenka (avtor), Grubelnik, Gašper (avtor), Tasić, Velibor (avtor), Momirovska, Ana (avtor)

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 in cis 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.

• Jezik: Angleški jezik
• Ključne besede: Alport syndrome, benign familial hematuria, isolated population, digenic inheritance, Galičnik
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2020
• Št. strani: 13 str.
• Številčenje: Vol. 11, iss. 11, art. 1377
• PID: 20.500.12556/RUL-134677
• UDK: 616.6
• ISSN pri članku: 2073-4425
• DOI: 10.3390/genes11111377
• COBISS.SI-ID: 38746115
• Datum objave v RUL: 25.01.2022

Gradivo je del revije

• Naslov: Genes
• Skrajšan naslov: Genes
• Založnik: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 20.11.2020

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: Alportov sindrom, benigna družinska hematurija, izolirana populacija

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0054
• Naslov: Patologija in molekularna genetika