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Polymorphism distribution of Int13, Int22, and St14 VNTRs in a Mexican population and their application in carrier diagnosis of hemophilia A
Author(s) -
Martínez Gallegos Rafael,
Benítez Aranda Herminia,
Navarrete Carmen,
Peñaloza Espinoza Rosenda,
Salamanca Gómez Fabio,
Arenas Aranda Diego
Publication year - 2004
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.20115
Subject(s) - loss of heterozygosity , variable number tandem repeat , allele , turkish population , genetics , tandem repeat , allele frequency , population , polymerase chain reaction , polymorphism (computer science) , biology , medicine , genotype , gene , environmental health , genome
Variable nucleotide tandem repeats (VNTR) Int13, Int22, and St14 were analyzed to determine polymorphic distribution in normal individuals from Mexico's central region and their efficacy in detecting hemophilia A carriers. Polymerase chain reaction (PCR) was carried out on 166 X chromosomes from unrelated Mexicans, and the same method was applied to detect carriers in hemophilia A families. Screening revealed the existence of at least eight different alleles for Int13, 4 alleles for Int22, and 10 alleles for St14. Their heterozygosity rates were 41.3%, 52.6%, and 83%, respectively. Compared to Caucasians, the Mexican population showed a markedly low heterozygosity rate for the Int13 marker. However, Int22 showed a heterozygosity that was similar to Turkish and Chinese populations. The St14 marker was the most informative in carrier diagnosis, and a new 680‐bp allele not previously reported was detected. Carrier diagnosis was performed in 39 women from eight different hemophilia A families. Fifteen (38%) females were not carriers, 16 (41%) females were carriers, and 8 (21%) were homozygous. Determination of polymorphisms in VNTR markers revealed that St14 was the most useful for hemophilia A carrier detection in Mexico. Am. J. Hematol. 77:1–6, 2004. © 2004 Wiley‐Liss, Inc.