DNA Polymorphisms Affecting Chemosensitivity Toward Drugs

SummaryScreening of restriction erzyme digested DNA from normal and protein C deficient individuals with a variety of probes derived from the protein C locus has revealed the existence of two neutral MspI polymorphism. One polymorphism (MI), which is located ≈7 kb upstream of the protein C gene, has allelic frequencies of 69 and 31%, and was used to exclude extensive gene deletions as a likely cause of type I protein C deficiency in 50% of cases in a panel of 22 families. Furtherrnore, the same polymorphism has been used in 5 doubly affected individuals establishing compound heterozygosity in 3 of these.The second, intragenic, polymorphism (MII) has allelic frequencies of 99 and 1% in the normal population. The frequency of the rare allele of this RFLP was with 7% much higher in a panel of 22 Dutch families with protein C deficiency. Interestingly, in all three probands that were heterozygous for MII the rare allele of MII coincided with a point mutation that leads to a stop codon in amino acid position 306 of the protein C coding sequence. This mutation may account for 14% of the protein C deficient individuals in The Netherlands.

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CARRIAGE OF THROMBOGENIC DNA POLYMORPHISMS IN FAMILIES WITH SEVERE PREECLAMPSIA PREGNANCY COMPLICATIONS

University proceedings Volga region Medical sciences ◽

10.21685/2072-3032-2017-3-8 ◽

2017 ◽

Author(s):

N. I. Fadeeva ◽

◽

A. A. Belinina ◽

O. V. Remneva ◽

M. B. Igitova ◽

...

Keyword(s):

Pregnancy Complications ◽

Severe Preeclampsia ◽

Dna Polymorphisms

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Two DNA polymorphisms in the lipoprotein lipase gene and their associations with factors related to cardiovascular disease.

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)40733-3 ◽

1993 ◽

Vol 34 (3) ◽

pp. 421-428

Author(s):

YI Ahn ◽

MI Kamboh ◽

RF Hamman ◽

SA Cole ◽

RE Ferrell

Keyword(s):

Cardiovascular Disease ◽

Lipoprotein Lipase ◽

Dna Polymorphisms ◽

Lipase Gene ◽

Lipoprotein Lipase Gene

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Statistical Tests of Neutrality of Mutations Against Population Growth, Hitchhiking and Background Selection

Genetics ◽

10.1093/genetics/147.2.915 ◽

1997 ◽

Vol 147 (2) ◽

pp. 915-925 ◽

Cited By ~ 294

Author(s):

Yun-Xin Fu

Keyword(s):

Population Growth ◽

Statistical Tests ◽

Dna Polymorphisms ◽

Background Selection ◽

Genetic Hitchhiking ◽

Alternative Models ◽

Tests Of Neutrality ◽

Rare Alleles

The main purpose of this article is to present several new statistical tests of neutrality of mutations against a class of alternative models, under which DNA polymorphisms tend to exhibit excesses of rare alleles or young mutations. Another purpose is to study the powers of existing and newly developed tests and to examine the detailed pattern of polymorphisms under population growth, genetic hitchhiking and background selection. It is found that the polymorphic patterns in a DNA sample under logistic population growth and genetic hitchhiking are very similar and that one of the newly developed tests, FS, is considerably more powerful than existing tests for rejecting the hypothesis of neutrality of mutations. Background selection gives rise to quite different polymorphic patterns than does logistic population growth or genetic hitchhiking, although all of them show excesses of rare alleles or young mutations. We show that Fu and Li's tests are among the most powerful tests against background selection. Implications of these results are discussed.

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The Role of Mitochondria in Carcinogenesis

International Journal of Molecular Sciences ◽

10.3390/ijms22105100 ◽

2021 ◽

Vol 22 (10) ◽

pp. 5100

Author(s):

Paulina Kozakiewicz ◽

Ludmiła Grzybowska-Szatkowska ◽

Marzanna Ciesielka ◽

Jolanta Rzymowska

Keyword(s):

Prostate Cancer ◽

Mitochondrial Dna ◽

Nuclear Dna ◽

Dna Polymorphisms ◽

Gene Encoding ◽

Dna Mutations ◽

Nadh Ubiquinone Oxidoreductase ◽

Gene Coi ◽

The Impact

The mitochondria are essential for normal cell functioning. Changes in mitochondrial DNA (mtDNA) may affect the occurrence of some chronic diseases and cancer. This process is complex and not entirely understood. The assignment to a particular mitochondrial haplogroup may be a factor that either contributes to cancer development or reduces its likelihood. Mutations in mtDNA occurring via an increase in reactive oxygen species may favour the occurrence of further changes both in mitochondrial and nuclear DNA. Mitochondrial DNA mutations in postmitotic cells are not inherited, but may play a role both in initiation and progression of cancer. One of the first discovered polymorphisms associated with cancer was in the gene NADH-ubiquinone oxidoreductase chain 3 (mt-ND3) and it was typical of haplogroup N. In prostate cancer, these mutations and polymorphisms involve a gene encoding subunit I of respiratory complex IV cytochrome c oxidase subunit 1 gene (COI). At present, a growing number of studies also address the impact of mtDNA polymorphisms on prognosis in cancer patients. Some of the mitochondrial DNA polymorphisms occur in both chronic disease and cancer, for instance polymorphism G5913A characteristic of prostate cancer and hypertension.

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Abundant Mitochondrial Genome Diversity, Population Differentiation and Convergent Evolution in Pines

Genetics ◽

10.1093/genetics/150.4.1605 ◽

1998 ◽

Vol 150 (4) ◽

pp. 1605-1614

Author(s):

Junyuan Wu ◽

Konstantin V Krutovskii ◽

Steven H Strauss

Keyword(s):

Mitochondrial Dna ◽

Population Differentiation ◽

Mitochondrial Gene ◽

Dna Polymorphisms ◽

Neighbor Joining ◽

Closely Related Species ◽

Breeding Programs ◽

Length Polymorphisms ◽

Polymerase Chain ◽

Mitochondrial Genome Diversity

Abstract We examined mitochondrial DNA polymorphisms via the analysis of restriction fragment length polymorphisms in three closely related species of pines from western North America: knobcone (Pinus attenuata Lemm.), Monterey (P. radiata D. Don), and bishop (P. muricata D. Don). A total of 343 trees derived from 13 populations were analyzed using 13 homologous mitochondrial gene probes amplified from three species by polymerase chain reaction. Twenty-eight distinct mitochondrial DNA haplotypes were detected and no common haplotypes were found among the species. All three species showed limited variability within populations, but strong differentiation among populations. Based on haplotype frequencies, genetic diversity within populations (HS) averaged 0.22, and population differentiation (GST and θ) exceeded 0.78. Analysis of molecular variance also revealed that >90% of the variation resided among populations. For the purposes of genetic conservation and breeding programs, species and populations could be readily distinguished by unique haplotypes, often using the combination of only a few probes. Neighbor-joining phenograms, however, strongly disagreed with those based on allozymes, chloroplast DNA, and morphological traits. Thus, despite its diagnostic haplotypes, the genome appears to evolve via the rearrangement of multiple, convergent subgenomic domains.

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Hypervariable single and multi-locus DNA polymorphisms for genetic typing of non-human primates

Primates ◽

10.1007/bf02382628 ◽

1993 ◽

Vol 34 (3) ◽

pp. 323-331 ◽

Cited By ~ 5

Author(s):

E. Jean Wickings

Keyword(s):

Dna Polymorphisms ◽

Genetic Typing

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Genetic Diversities and Historical Dynamics of Native Ethiopian Horse Populations (Equus caballus) Inferred from Mitochondrial DNA Polymorphisms

Genes ◽

10.3390/genes12020155 ◽

2021 ◽

Vol 12 (2) ◽

pp. 155

Author(s):

Kefena Effa ◽

Sonia Rosenbom ◽

Jianlin Han ◽

Tadelle Dessie ◽

Albano Beja-Pereira

Keyword(s):

Genetic Diversity ◽

Mitochondrial Dna ◽

Genetic Differentiation ◽

Sequence Divergence ◽

Dna Polymorphisms ◽

Base Pairs ◽

Feral Horses ◽

Domestic Horses ◽

D Loop ◽

Diversity Estimates

Matrilineal genetic diversity and relationship were investigated among eight morphologically identified native Ethiopian horse populations using polymorphisms in 46 mtDNA D-loop sequences (454 base pairs). The horse populations identified were Abyssinian, Bale, Borana, Horro, Kafa, Kundido feral horses, Ogaden and Selale. Mitochondrial DNA D-loop sequences were characterized by 15 variable sites that defined five different haplotypes. All genetic diversity estimates, including Reynolds’ linearized genetic distance, genetic differentiation (FST) and nucleotide sequence divergence (DA), revealed a low genetic differentiation in native Ethiopian horse populations. However, Kundido feral and Borana domestic horses were slightly diverged from the rest of the Ethiopian horse populations. We also tried to shed some light on the matrilineal genetic root of native Ethiopian horses from a network constructed by combining newly generated haplotypes and reference haplotypes deposited in the GenBank for Eurasian type Turkish Anatolian horses that were used as a genetic conduit between Eurasian and African horse populations. Ninety-two haplotypes were generated from the combined Ethio-Eurasian mtDNA D-loop sequences. A network reconstructed from the combined haplotypes using Median-Joining algorithm showed that haplotypes generated from native Ethiopian horses formed separate clusters. The present result encourages further investigation of the genetic origin of native African horses by retrieving additional mtDNA sequences deposited in the GenBank for African and Eurasian type horses.

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