Pakistan J
نویسندگان
چکیده
Turner’s syndrome is a disorder in human females characterized by the presence of one normal X chromosome and the complete or partial loss of the second X chromosome. Turner’s syndrome is usually diagnosed by karyotyping which is time-consuming, expensive and unfeasible for population screening. The present method of molecular detection was based on the ability of HpaII, a methylation sensitive endonuclease, to induce the cleavage of non-methylated DNA in the active X-allele. Genomic DNA was obtained from 30 affected females with clinical symptoms of Turner’s syndrome. After digestion with HpaII, DNA was amplified with primers specific for a part of exon 1 of the androgen receptor (AR) gene and for GAPDH control gene. Normal females with a second methylated X chromosome escaped from HpaII digestion and produced a band corresponding to AR gene amplification. 45, XO patients have just one active non-methylated X chromosome, completely digested by HpaII, thus there was no amplification of the AR gene. Using this three-step diagnostic procedure, 45, XO karyotype was detected in 6 cases among 30 patients. Later on these samples were confirmed by karyotyping. One case was found with isochromosome pattern of chromosomal constitution, while in two other cases 45, XO/46, XX mosaicism was detected after karyotyping. So 45, XO monosomy was detected in 6 among 9 Turner patients (6/9). It was concluded from this study that the method of molecular detection is cost effective, rapid and more appropriate to detect Turner’s syndrome as compared to karyotyping.
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تاریخ انتشار 2009