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1

COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta

100%
Benusiene E., Kucinskas V.
Journal of Applied Genetics
|
2003
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vol. 44
|
issue 1
95-102
EN
Osteogenesis imperfecta (OI) is a generalised disorder of connective tissue characterised by an increased fragility of bones and also manifested in other tissues containing collagen type I, by blue sclera, hearing loss, dentinogenesis imperfecta, hyperextensible joints, hernias and easy bruising. OI is dominantly inherited and results in >90% OI cases, caused by mutations in one of the two genes COL1A1 or COL1A2 coding for type I procollagen. The Lithuanian OI database comprises 147 case records covering the period of 1980 ? 2001. Clinical and genealogical analysis of OI cases/families from Lithuania available for examination revealed 18 familial cases of OI type I and 22 sporadic cases: OI type II (3 cases), OI type III (11 cases) and OI type I (8 cases). As a result of their molecular genetic investigation, 11 mutations were identified in the COL1A1 gene in 13 unrelated patients. Of them, nine mutations (E500X, G481A, c.2046insCTCTCTAG, c.1668delT, c.1667insC, c.4337insC, IVS19+1G > A, IVS20-2A > G, IVS22-1G > T) appeared to be novel, i.e. not yet registered in the Human Type I and Type III Collagen Mutations Database (http://www.le.ac.uk/genetics/collagen).
2

Variability of the human mitochondrial DNA control region sequences in the Lithuanian population

100%
Kasperaviciute D., Kucinskas V.
Journal of Applied Genetics
|
2002
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vol. 43
|
issue 2
255-260
EN
The Lithuanians and Latvians are the only two Baltic cultures that survived until today. Since the Neolithic period the native inhabitants of the present-day Lithuanian territory have not been replaced by any other ethnic group. Therefore the genetic characterization of the present-day Lithuanians may shed some light on the early history of the Balts. We have analysed 120 DNA samples from two Lithuanian ethnolinguistic groups (Aukstaiciai and Zemaiciai) by direct sequencing of the first hypervariable segment (HVI) of the control region of mitochondrial DNA (mtDNA) and restriction enzyme digestion for polymorphic site 00073. On the basis of specific nucleotide substitutions the obtained sequences were classified to mtDNA haplogroups. This revealed the presence of almost all European haplogroups (except X) in the Lithuanian sample, including those that expanded through Europe in the Palaeolithic and those whose expansion occurred during the Neolithic. Molecular diversity indices (gene diversity 0.97, nucleotide diversity 0.012 and mean number of pairwise differences 4.5) were within the range usually reported in European populations. No significant differences between Aukstaiciai and Zemaiciai subgroups were found, but some slight differences need further investigation.
3

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania

81%
Morkunienc A., Steponaviciutc D., Utkus A., Kucinskas V.
Journal of Applied Genetics
|
2007
|
vol. 48
|
issue 1
89-91
EN
Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (p = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.
4

Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania

81%
Morkunienc A., Steponaviciutc D., Utkus A., Kucinskas V.
Journal of Applied Genetics
|
2007
|
vol. 48
|
issue 3
89-91
EN
Nonsyndromic orofacial clefting (NS-OFC) is a common complex multifactorial trait with a considerable genetic component and a number of candidate genes suggested by various approaches. Twenty biallelic and microsatellite DNA markers in the strong candidate loci TGFA, TGFB3, GABRB3, RARA, and BCL3 were analysed for allelic association with the NS-OFC phenotype in 112 nuclear families (proband + both parents) from Lithuania by using the transmission disequilibrium test (TDT). Associations were found between the TGFA gene marker rs2166975 and nonsyndromic cleft palate only (CPO) phenotype (p = 0.045, df 1) as well as between the D2S292 marker and the cleft lip with or without cleft palate (CL/CP) phenotype in allele-wise TDT (P = 0.005, df 9) and genotype-wise TDT (P = 0.021, df 24). A weak association (P = 0.085, df 3) of the BCL3 marker (BCL3 gene) with the risk of CPO was also found. Thus our initial results support the contribution of allelic variation in the TGFA locus to the aetiology of CL/CP in the population of Lithuania but they do not point to TGFA as a major causal gene. Different roles of the TGFA and BCL3 genes in the susceptibility to NS-OFC phenotypes are suggested.
5

Recombinant chromosome 14 due to maternal pericentric inversion

81%
Sliuzas V., Utkus A., Kucinskas V.
Journal of Applied Genetics
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2008
|
vol. 49
|
issue 2
205-207
EN
Chromosome 14 is often involved in various chromosome rearrangements, most of them balanced. Human chromosome 14 is acrocentric, so its pericentric inversions are extremely rare (only few cases have been described in the literature). Here we report on a boy with congenital malformations and recombinant chromosome 14 inherited from his mother carrying a pericentric inversion. The proband's G-banded chromosome analysis revealed derivative chromosome 14. Comparative genomic hybridization analysis identified duplication of the terminal part of chromosome 14q ish cgh dup(14)(q32.1qter). This abnormality has been confirmed by custom BAC FISH analysis. His mother's karyotype was 46,XX,inv(14)(p11.2q32.1).
6

Mutations in the human rhodopsin gene and polymorphisms in peripherin/RDS gene in Lithuanian autosomal dominant retinitis pigmentosa patients

52%
Kucinskas V., Payne A. M., Ambrasiene D., Jurgelevicius V., Stepanoviciute D., Arciuliene J., Daktaraviciene E., Bhattacharya S.
Journal of Applied Genetics
|
1999
|
vol. 40
|
issue 1
53-61
EN
Lithuanian patients with visual problems were clinically examined for retinitis pigmentosa (RP). Out of more than 70 clinically and genealogically tested patients with familial retinal degenerations, 33 unrelated families with autosomal dominant RP (adRP) were identified. Screening for mutations in the rhodopsin (RHO) and polymorphisms in the peripherin/RDS (RDS) genes was initially performed in the adRP patients using DNA heteroduplex (HD) analysis. Direct DNA sequencing in the cases of heteroduplex formation showed the presence of the following mutations and polymorphisms in 14 adRP patients: RHO gene mutations - Lys248Arg (one case), and Pro347Leu (two cases) and RDS gene polymorphisms - Glu304Gln (12 cases), Lys310Arg (5 cases), and Gly338Asp (12 cases). The presence of these changes in nucleotide sequence (except Lys248Arg in the RHO gene) was confirmed by relevant restriction enzyme digestion. Since RHO gene mutation Pro347Leu has been shown to be related to adRP, early diagnosis of adRP is possible in the corresponding families. On the other hand, RDS gene mutations Glu304Gln, Lys310Arg, and Gly338Asp appear to be polypeptide polymorphisms not related to adRP. Low prevalence of adRP causing mutations identified in the RHO gene and similar distribution of the peripherin/RDS amino acid polymorphisms in the Lithuanian adRP probands imply the presence of genetic peculiarities of the Lithuanian population in comparison to other European populations.
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