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DNA polymorphisms identified by six X-chromosome probes, linked to genetic diseases, in a Spanish population

Fernando Juan; Mª José Martínez-Sebastián; Carmen Nájera

Departamento de Genética, Facultad de Ciencias Biológicas, Universidad de Valencia, Dr. Moliner 50, 46100 Burjassot, Valencia, Spain. Send correspondence to C.N.

ABSTRACT

Using six different X-chromosome probes, the frequency of restriction fragment length polymorphism (RFLP) with restriction endonucleases was estimated in unrelated people of a Spanish population from Valencia. The allele frequencies were similar to those of other European populations, in particular to the French and Turkish. A high degree of polymorphism was found for all markers, the rare allele frequency ranging between 0.484 and 0.357, and a high level of heterozygosity of the markers L1.28, 754, OTC and p58.1 was found in this population, confirming their utility for diagnosis.

Keywords: DNA polymorphisms; X-chromosome probes; genetic diseases; Spanish population.

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