Dating the origin of the CCR5-delta32 (ital) AIDS-resistance allele by the coalescence of haplotypes
Article Abstract:
The CCR5-delta32 (ital) deletion gets rid of the CCR5 (ital) chemokine and the human immunodeficiency virus (HIV)-1 coreceptor on lymphoid cells. That leads to strong resistance against HIV-1 infection and AIDS. A genotype survey of 4,166 persons showed a cline of CCR5-delta32 allele frequencies is 0%-14% for Eurasia. The variant is not found in native American Indian, African and East Asian ethnic groups. The origin of the CCR5-delta32 (ital)-containing ancestral haplotype is estimated to be about 700 years ago.
author: Carrington, Mary, O'Brien, Stephen J., Winkler, Cheryl, Goldman, David, Reich, David E., Chandler, David, Dean, Michael, Gerrard, Bernard, Estivill, Xavier, Goldstein, David B., Smith, Michael W., Gasparini, Paolo, Duffy, David, Oddoux, Carole, Ostrer, Harry, Morlot, Susanne, Duff, Gordon, Huttley, Gavin A., Martin, Nick, Claustres, Mireille, Glavac, Damjan, Stephens, J. Claiborne, Shin, Hyoung Doo, Allikmets, Rando, Shriml, Lynn, Malasky, Michael, Ramos, Maria D., Tzetis, Maria, Giovine, Francesco S. de, Nasioulas, Georgios, Aseev, Michael, Kanavakis, E., Kambouris, Marios, Baranov, Vladislav, Sibul, Hiljar, Metspalu, Andres, Schmidtke, Jorg, Hanson, Matthew, Kalaydjieva, Luba
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
United Kingdom, Italy, Greece, Australia, Germany, Saudi Arabia, Spain, Slovenia, Estonia, Russia, Usage, Native Americans, Native North Americans, Chromosome mapping, AIDS (Disease), Caucasian race, Whites, Asians, Africans, Disease susceptibility, Eurasians
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
Article Abstract:
Studies support a heterozygote advantage underlying familial Mediterranean fever. By cloning the MEFV gene linked to this recessive disorder, researchers have been able to determine 11 mutations that accounted for nearly 80% of carrier chromosomes in 90 symptomatic individuals. A broader ethnic testing sample revealed mutations on multiple microsatellite haplotypes.
author: Kastner, Daniel L., Giustolisi, Rosario, Pras, Elon, Aksentijevich, Ivona, Pras, Mordechai, Oddoux, Carole, Ostrer, Harry, Wood, Geryl, Torosyan, Yelizaveta, Samuels, Jonathan, Centola, Michael, Chae, Jae Jin, Azzaro, Maria Pia, Palumbo, Giuseppe
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Fever, Relapsing fever
Age estimates of two common mutations causing factor XI deficiency: recent genetic drift is not necessary for elevated disease incidence among Ashkenazi Jews
Article Abstract:
Coagulation factor XI deficiency in Ashkenazi Jews has been found to be independent of demographic changes occurring in the 1500s and 1600s. Frequent occurrence of the type II mutation in both Ashkenazi and Iraqi Jews indicates that it surfaced before the separation of these two ethnic groups, and has since generated variants.
author: Seligsohn, Uri, Reich, David E., Goldstein, David B., Bradman, Neil, Usher, Sali, Peretz, Hava
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Blood clotting disorders, Blood coagulation disorders
subjects list: Research, United States, Genetic aspects, Genetic disorders, Health aspects, Jews
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