Haplotype analysis of the Mexican frameshift Cd 11 (-T) and -28 A->C beta-thalassemia alleles.
The origins of the -28 A->C and frameshift Cd 11 - T(Fs CD 11-T)alleles were investigated by beta-globin cluster haplotype analysis. These alleles were found in a Mexican mestizo family with beta-thalassemia (beta-thal). The -28 A->C mutation was described previously in Kurdish Jews linked to the most common haplotype in the world(+----++),the same haplotype observed in this Mexican family. Therefore, it is not possible to assess a new origin of the -28 A->C mutation in our population. The Fs Cd 11 -T allele, not reported to date in any other populations, was linked to the -++--+-haplotype (sixth in frequency in the world). This haplotype has not been reported in association with any beta-thal mutant, suggesting a Mexican origin for the Cd 11 -T mutation.
Perea
F J
FJ
Divisiones de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Hospital de Pediatría, Guadalajara, México.
Esparza
M A
MA
Villalobos-Arambula
A R
AR
Ibarra
B
B
Old
J M
JM
D000293:Adolescent; D000483:Alleles; D005260:Female; D005914:Globins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D008297:Male; D008800:Mexico; D009154:Mutation; D010375:Pedigree; D044465:White People / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins