"Cryptic" dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations.
Long tandem dinucleotide repeats composed of alternating purines and pyrimidines [RY(i)] are abundant and highly polymorphic. "Simple" RY(i) are predominantly composed of one tandem repeat of a dinucleotide sequence. In contrast, "cryptic" RY(i) [cRY(i)] are composed of multiple short dinucleotide repeats. Herein, we describe the racial distribution of alleles for a polymorphic cRY(i) in the factor IX gene. Allele I is absent in Asians, whereas allele III is rare or absent in Caucasians or blacks. A polymorphic cRY(i) analyzed previously shows even more dramatic variation among racial groups, hinting that a battery of cRY(i) might have utility in assessing the racial origin of a DNA sample.
Sommer
S S
SS
Department of Biochemistry and Molecular Biology, Mayo Clinic/Foundation, Rochester, MN 55905.
Tillotson
V L
VL
Vielhaber
E L
EL
Ketterling
R P
RP
Dutton
C M
CM
D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA; D005164:Factor IX / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D044469:Racial Groups / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
D005164:Factor IX; D004247:DNA