RFLPs in the diagnosis of genetic and chromosomal disorders

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1) . A novel RFLP probe, 87-10a, is developed. It is mapped to Xq26-q28 region and detects RFLPs with 6 different restriction enzymes, TaqI, BamHI, HindIII, PstI, PvuII and XbaI.2) . Two new RFLPs are described using the 47z probe which has not been known to be polymorphic. An X-polymorphism is detected in Japanese, Caucasians and Negroes, however, Y polymorphism was detected only in Japanese males. 3). The pHY10 is a probe cloned from the DYZl repeating-DNA family on the long arm of a Y chromosome. The use of it in combination with TaqI digestion revealed, to our surprise, a novel, mini-satellite-like polymorphism in both males and females. It was found useful in the distinction of mono- and di-zygotic twin pairs. 4). A probe known to detect RFLP in Finnish failed to detect RFLPs in Japanese, Caucasian (USA) and Negroes. 5). About 10% of RFLPs described among Caucasian population were not detected among Japanese. 6) An attempt to map spastic paraplegia was briefly described. 7). An experience in Japanese patient with hemophilia A revealed that in about 90% f the families, carrier detection was possible with 5-RFLP probes. 8). RFLP techniques were also applied in the determination of structural rearrangements of both autosomes and sex chromosomes. 9). An RFLP within the oncogene N-myc was described and allele frequencies were determined.