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.

United Kingdom, Italy, Greece, Australia, Germany, Saudi Arabia, Spain, Slovenia, Estonia, Russia, Native Americans, Native North Americans, AIDS (Disease), Caucasian race, Whites, Asians, Africans, Disease susceptibility, Eurasians

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CTNS (ital) mutations in an American-based population of cystinosis patients

Article Abstract:

CTNS (ital) mutations in an American-based population of cystinosis patients, patients with a rare autosomal recessive lysosomal storage disease of renal failure at age 10 and other systemic complications, are discussed. The mutations are spread across the leader sequence, and the nontranmembrane and transmembrane regions and potentially give a basis for molecular diagnosis in the affected population.

Statistical Data Included, Cystinosis

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