Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers.
نویسندگان
چکیده
We report on two cases of prenatal diagnosis of myotonic dystrophy (DM), using flanking markers APOC2 or CKMM on the proximal side and D19S51 on the distal side. By double digestion (TaqI and NcoI) of PCR amplified CKMM, the informativeness was increased from a PIC value of 0.57 to 0.69. Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers.
منابع مشابه
Identification of new DNA markers close to the myotonic dystrophy locus.
The most useful markers for the prenatal diagnosis of myotonic dystrophy (DM) are APOC2 and CKM, both of which map proximal to DM. In order to produce other markers useful for DM, we have screened genomic DNA libraries constructed from cell line 20XP3542-1-4, which contains 20 to 30 Mb of human material including APOC2 and CKM. Of 51 human clones identified, seven map to chromosome 17, four to ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 2 شماره
صفحات -
تاریخ انتشار 1991