Search results for "Founder Effect"
showing 10 items of 31 documents
Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation
2003
Pendred's syndrome, an autosomal-recessive condition characterized by congenital sensorineural hearing loss and goiter, is caused by mutations in the PDS gene. Located on chromosome 7q22-q31, it encodes a chloride-iodide transporter expressed in the thyroid, inner ear, and kidney. We investigated the PDS gene of six affected individuals from four unrelated families with Pendred's syndrome by direct sequencing. PDS mutations were identified in homozygous or compound heterozygous state in all six cases. A homozygous missense mutation leading to the amino acid substitution S133T was detected in a family of Turkish origin. The mutations found in the other affected individuals, who originate fro…
Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III
2006
International audience; Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema. Three forms of HAE have been described. The classic forms, HAE types I and II, occur as a consequence of mutations in the C1-inhibitor gene. In contrast to HAE types I and II, HAE type III has been observed exclusively in women, where it appears to be correlated with conditions of high estrogen levels--for example, pregnancy or the use of oral contraceptives. A recent report proposed two missense mutations (c.1032C-->A and c.1032C-->G) in F12, the gene encoding human coagulation factor XII (FXII, or Hageman factor…
Founder-effect speciation theory: Failure of experimental corroboration
1995
The theory of founder-effect speciation proposes that colonization by very few individuals of an empty habitat favors rapid genetic changes and the evolution of a new species. We report here the results obtained in a 10-year-long and large-scale experiment with Drosophila pseudoobscura designed to test the theory. In our experimental protocol, populations are established with variable numbers of very few individuals and allowed to expand greatly for several generations until conditions of severe competition for resources are reached and the population crashes. A few random survivors are then taken to start a new population expansion and thus initiate a new cycle of founding events, populati…
Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: Phenotypic variability and founder …
2004
WOS: 000223072400081 PubMed ID: 15292359 Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 Gdouble right arrowA) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we …
Phylogeography and demographic inference in Nacella (Patinigera) concinna (Strebel, 1908) in the western Antarctic Peninsula
2011
10 pages; International audience; Endemic to Antarctic ecosystems, the limpet Nacella (Patinigera) concinna (Strebel, 1908) is an abundant and dominant marine benthic invertebrate of the intertidal and shallow subtidal zone. In order to examine the phylogeographic pattern and historical demography of the species along the western Antarctic Peninsula, we amplified 663 bp of the mitochondrial DNA cytochrome oxidase subunit I of 161 N. concinna specimens from five localities, as well as two specimens from South Georgia and Sub-Antarctic Marion Island. As two different morphotypes, one characterized by an elevated shell in the intertidal and the other by a flat one in the subtidal, have been re…
Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia
1999
Germ-line mutations of the BRCA1 gene account for approximately half of the cases of hereditary breast/ovarian cancers. We have screened index patients from 15 breast cancer families and 8 sporadic breast cancer patients from Latvia for mutations in all coding exons of the BRCA1 gene, using combined Heteroduplex Analysis/SSCP followed by direct sequencing of the variants. BRCA1 germ-line mutations proved to be frequent in Latvian breast cancer patients, also in moderate-risk families and sporadic patients. Out of 23 cases a total of 8 patients (35%) exhibited three different mutations (5382insC, C61G, 4153delA). Interestingly, these three recurrent mutations accounted for all mutations in o…
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
2003
The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH haplotypes. R408W-2.3 exhibits a west-to-east cline of relative frequency reaching its maximum in the Balto–Slavic region, while R408W-1.8 exhibits an east-to-west cline peaking in Connacht, the most westerly province of Ireland. Spatial autocorrelation analysis has demonstrated that the R408W-2.3 cline, like that of R408W-1.8, is consistent with a pattern likely to have been established by human dispersal. Genetic diversity within wild-type and R408W chromosomes in Europe was assessed through variable number tandem repeat (VNT…
Tracing European Founder Lineages in the Near Eastern mtDNA Pool
2000
Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus d…
La genètica de les migracions humanes: Seguint el rastre de les migracions a través del nostre genoma
2014
La reconstruccio de les migracions humanes es possible gracies a la informacio aportada per diverses disciplines. L’estudi de la diversitat genetica de les poblacions humanes actuals ens revela quins han estat els esdeveniments demografics i moviments migratoris passats que han deixat una empremta en el nostre genoma. El coneixement dels moviments migratoris en temps prehistorics ens permet comprovar hipotesis proposades des d’altres disciplines cientifiques. De la mateixa manera, la distribucio de la diversitat genetica en el futur dependra, en gran part, de les intenses migracions humanes actuals facilitades pels avencos tecnologics.
Invasion success despite reduction of genetic diversity in the European populations of eastern mosquitofish (Gambusia holbrooki)
2006
The introduction of a few individuals to new, isolated habitats (founder effect) is expected to reduce the genetic variability of a population. At the beginning of the last century a few eastern mosquitofish (Gambusia holbrooki) individuals were introduced to Southern Europe from North America to control malaria‐carrying mosquitoes. We studied the effect of this severe bottleneck on genetic variability in four populations of eastern mosquitofish introduced to Spain and Italy in the early 1900s and compared them to a native population in North America. Using amplified polymorphic DNA–polymerase chain reaction (RADP–PCR) we found a strong reduction of genetic diversity, in terms of both numbe…