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[The molecular genetics of the fragile X syndrome. Its molecular diagnosis by DNA probes]
R Giné1, M L Espinás, J Antich
1Centro de Investigación y Desarrollo, Hospital de la Seguridad Social de Las Palmas.
Background:
The cytogenetic analysis of the fragile X affected shows a break point in the q27.3 region of chromosome X. However many carrier females and normal carrier males remain refractory to cytogenetic diagnosis. New DNA probes tightly linked to the fragile X point are now available allowing by the familiar RFLP analysis to detect the carrier members.
Methods:
Fragile X syndrome affected families were studied cytogenetically and by the use of DNA probes flanking the fragile X region: 1A1, U6.2, VK21 in the distal region and RN1, 4D-8, cX55.7 in the proximal.
Results:
The haplotypes from two X fragile syndrome affected families were obtained. These families were informatives for all the DNA probes used. The cytogenetic results obtained agree with the previously inheritance pattern reported.
Conclusions:
It is very important to detect the normal male carriers. The determination in one family of the origin of the fragile X mutation is possible by the use of DNA probes.