Disease relevance of Founder Effect

• A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families [1].
• Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations [2].
• Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation [3].
• Mutation of the glucagon receptor gene and diabetes mellitus in the UK: association or founder effect [4]?
• The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect [5].

Psychiatry related information on Founder Effect

• After the DNA diagnosis, we evaluated the prevalence of Huntington's disease (HD) in the San-in area of Japan, and confirmed the founder effect [6].

High impact information on Founder Effect

• A strong founder effect was observed in the Hispano-American population, all families being linked to CCM1 on 7q (refs 4,7) [7].
• We conclude that PEX7 is responsible for RCDP (PBD CG11) and suggest a founder effect may explain the high frequency of L292ter [8].
• The same mutation occurs in all the families with the shared BRCA2 haplotype indicating a founder effect [9].
• CETP deficiency appears to be a frequent cause of increased HDL levels in the population of Japan, possibly because of a founder effect [10].
• The finding of two common LDL receptor mutations in the Afrikaner FH homozygotes predicts that these mutations will predominate in the Afrikaner population and that the high frequency of FH is due to a founder effect [11].

Chemical compound and disease context of Founder Effect

• These data demonstrate that podocin mutations in nonfamilial cases of steroid-resistant nephrotic syndrome are frequent and may be due in one case to a founder effect [12].
• While the high frequency of some of the disorders, such as corticosterone methyloxydase deficiency type II, represents a founder effect, in other diseases (such as beta-thalassemia) it was secondary to heterozygote advantage [13].

Biological context of Founder Effect

• Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects [14].
• Using dinucleotide repeats contained within or close to the dihydropyridine receptor gene, in conjunction with evidence of a de novo Arg1239His mutation, we show that a founder effect is unlikely to account for the two predominant mutations [15].
• All four families shared the same allele on the disease chromosome at a locus closely linked to SCA7, suggesting the possibility of a founder effect in the Swedish population [16].
• Microsatellite analysis of the CACNA1A gene indicated a founder effect for SCA6 within this region [17].
• High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population [18].

Associations of Founder Effect with chemical compounds

• A single haplotype shared by chromosomes bearing the Cys 618 Arg mutation in both families strongly suggests a founder effect for this mutation [19].
• The leucine at position 41 was stable, although it was encoded by TTG and CTG triplets that fluctuated in abundance partially due to founder effects of clones with nonsilent mutations at codon 215 [20].
• High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect [21].
• Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels [22].
• In summary, on the island of Kosrae, a strong founder effect of a mutant ABCG8 allele results in a large number of carriers with increased plasma plant sterol levels and decreased lathosterol levels [22].

Gene context of Founder Effect

• These findings have implications for the estimation of the time of origin of BRCA1 mutations having a founder effect, the interpretation of the significance of rare allelic variants, and the study of the origins of modern populations [23].
• A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM [24].
• In addition, there was no evidence of a PRNP founder effect in the first reported geographical cluster of vCJD [25].
• A conserved haplotype encompassing the IL12B gene suggested that a founder effect accounted for the recurrence of each mutation [26].
• Our detection of an EXT1 mutation in one Chamorro subject will allow investigation of a possible founder effect in this population [27].

Analytical, diagnostic and therapeutic context of Founder Effect

• CCM1, a yet unidentified gene mapping on 7q21-q22, was shown to be involved in all CCM Hispano-American families, with a strong founder effect [28].
• Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations [29].

References