[Analysis of the allelic polymorphism of the five X-linked (CA)n dinucleotide repeats in Russia].
A PCR-based survey of allelic polymorphism of three microsatellite markers, DXS998, DXS548, and FRAXAC1, mapped to chromosome region Xp27.3, and two microsatellite markers, DXS8091 and DXS1691 located on Xq28 was carried out using a series of DNA samples obtained from 98 unrelated individuals from Russia. The number of alleles detected on electrophregrams for each marker tested was 4, 6, 4, 5, and 3, respectively. The values of heterozygosity index for the markers examined were 0.65, 0.27, 0.38, 0.70, and 0.29, respectively. The observed distribution of the allelic frequencies for each microsatellite marker examined fitted Hardy--Weinberg expectations. The values of individualization potential determined for each marker were 0.24, 0.53, 0.43, 0.12, and 0.52, respectively. In the sample tested the genotype distribution with regard to above loci was determined. The perspectives of using the analyzed allelic polymorphisms for indirect DNA diagnostics of the monogenic diseases located in this chromosome region (X-linked mental retardations, FRAXA and FRAXE) as well as for human population genetics and personal identification is discussed.
Research Center for Medical Genetics, Russian Academy of Medical Sciences, Moscow, 115478 Russia.
O V
OV
Drozd
V V
VV
Strel'nikov
O V
OV
Babenko
V V
VV
Zemliakova
M V
MV
Nemtsova
D V
DV
Zaletaev
D000483:Alleles; D041321:Chromosomes, Human, X; D018900:Dinucleotide Repeats; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins; D012426:Russia; D015534:Trans-Activators / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D005819:Genetic Markers; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D016601:RNA-Binding Proteins; D015534:Trans-Activators; C099930:AFF2 protein, human; C497683:FMR1 protein, human