Mutations in Collagen Genes in the Context of an Isolated Population
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Genetic Context of Nephropathy in the Galičnik Population
3.2. Genetic Context of the Galičnik Population
3.2.1. Y Chromosome
3.2.2. mtDNA
4. Discussion
5. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Case Number | Sex | Age | Hematuria (Age)/Proteinuria | ESRD (Age) | Hearing Loss | Ocular Lesions | Mutation Status | ||
---|---|---|---|---|---|---|---|---|---|
COL4A3 | COL4A4 | COL4A5 | |||||||
II/4 | M | deceased (61) | NA | yes (61) | NA | NA | NA | NA | NA |
III/4 | F | 90 | yes/no | yes | yes (70) | no | wt | wt | c.1871G > A p.(Gly624Asp) |
III/9 | M | deceased (80) | yes/yes | yes | yes (70) | no | c.3307_3315del p.(Pro1103_Ser1105del) | c.755G > A p.(Gly252Asp) | wt |
IV/2 | F | 71 | yes (EO)/no | no | no | no | c.3307_3315del p.(Pro1103_Ser1105del) | wt | c.1871G > A p.(Gly624Asp) |
IV/3 | M | deceased (60) | yes (EO)/yes | yes (60) | NA | NA | NA | NA | NA |
IV/10 | F | 53 | yes/no | no | no | no | wt | c.755G > A p.(Gly252Asp) | wt |
IV/11 | F | 56 | yes (EO)/yes | no | yes | no | c.3307_3315del p.(Pro1103_Ser1105del) | c.755G > A p.(Gly252Asp) | wt |
V/3 | F | 48 | yes (EO)/no | no | no | no | wt | wt | c.1871G > A p.(Gly624Asp) |
V/4 | F | 33 | yes (EO)/no | no | no | no | wt | wt | c.1871G > A p.(Gly624Asp) |
V/9 | M | 29 | yes/no | no | no | no | wt | c.755G > A p.(Gly252Asp) | wt |
V/10 | F | 25 | yes (8)/no | no | no | no | wt | c.755G > A p.(Gly252Asp) | wt |
V/11 | F | 21 | yes (9)/no | no | no | no | wt | c.755G > A p.(Gly252Asp) | wt |
VI/1 | F | 23 | yes (EO)/no | no | no | no | wt | wt | c.1871G > A p.(Gly624Asp) |
Haplogroup | % |
H | 28.4 |
H * | 13.4 |
H1 | 4.1 |
H11 | 6.8 |
H17 | 4.1 |
HV | 18.9 |
HV8 | 18.9 |
U | 21.7 |
U * | 1.4 |
U2 | 4.1 |
U3 | 1.4 |
U5 | |
>U5b | 2.7 |
K | |
>K * | 2.7 |
>K1 | 9.4 |
J1 | 8.1 |
J * | 1.4 |
J1c | 4.1 |
J1d | 2.6 |
T | 2.7 |
T1 | 2.7 |
N * | 20.2 |
N2 * | 1.4 |
R * | 2.7 |
R0 | 10.7 |
W1 | 5.4 |
Other | 0.0 |
Population size | 74 |
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Zupan, A.; Matjašič, A.; Grubelnik, G.; Tasić, V.; Momirovska, A. Mutations in Collagen Genes in the Context of an Isolated Population. Genes 2020, 11, 1377. https://doi.org/10.3390/genes11111377
Zupan A, Matjašič A, Grubelnik G, Tasić V, Momirovska A. Mutations in Collagen Genes in the Context of an Isolated Population. Genes. 2020; 11(11):1377. https://doi.org/10.3390/genes11111377
Chicago/Turabian StyleZupan, Andrej, Alenka Matjašič, Gašper Grubelnik, Velibor Tasić, and Ana Momirovska. 2020. "Mutations in Collagen Genes in the Context of an Isolated Population" Genes 11, no. 11: 1377. https://doi.org/10.3390/genes11111377