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KMID : 0358419950380122293
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Korean Journal of Obstetrics and Gynecology
1995 Volume.38 No. 12 p.2293 ~ p.2302
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Molecular Genetic Analysis in Fragile X Syndrome(I)
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이숙환
김언경/곽인평/김종욱/이우식/김승보/차광열
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Abstract
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Background:
@EN The fragile X syndrome, the most common from of inherited metal retardation, is caused by mutations that increase the size of a specific DNA fragment of the X chromosome(Xq 27.3). In Korea, we don't have molecular study analysis about the
fragile X
syndrome which never found geographic, racial or ethnic clustering of this syndrome. We have analyzed fragile X syndrome in terms of molecular method.
@ES Patients and Methods:
@EN Ninety-four patients who were referred to Human Genetics Center of Cha General Hospital under the tentative impression of fragile X syndrome were studied using mutation analysis with Southern blotting and polymerase chain reaction (PCR).
Mutations
and abnormal methylation were detected by Southern blotting with a probe adjacent to the mutation target. Their size of the repeat region was also determined by a second method, polymerase chain reaction(PCR). The DNA in this region was amplified
by the
PCR and the size of the amplification products were determined.
@ES Results:
@EN DNA analysis unambiguously established the genetic status at the fragile X locus for all samples test. 8 in 94 patients(8.5%) were affected and 9 in 94 patients(9.6%) were carrier status.
@ES Conclusion:
@EN Southern blotting was more powerful and reliable than cytogenetic testing or segregation studies with closely linked polymorphic markers. PCR may help to analyze the size of the repeat region which led to determine the status of some carriers
and
normal individuals. The discrete bands in affected and carrier status detected by PCR were not always seen on the direct analysis. Therefore, caution should be exercised in interpreting PCR results alone for diagnosis of affected and some carrier
individuals. We suggest that if altered allele are detected by PCR, confirmatory direct genomic Southern analysis should be offered.
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