This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated usi...

An overview on legal regulation, taxonomy, and botanical and chemical methods of analysis of marijuana are provided. Emphases are placed on the applications of the recently developed molecular biology methods to the identification and characterization of marijuana samples. Procedures for the extraction of plant DNA, DNA amplification, restriction analysis, and sequence analysis are reviewed. Th...

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in var...

SOURCE/DESCRIPTION: A 7.5 kb Bglll fragment from the cosmid RMR6 was subcloned into the BamHI site of pUC18. L POLYMORPHISM: TaqI identifies a 2 allele polymorphism with a r band at 2.5 kb (Tl) or 2.3 kb (T2) with a constant band at 1.5 h kb. CHROMOSOMAL LOCALIZATION: This probe has been assigned to chromosome 20 by linkage analysis (1) with a locus (D2OS1) known to span this chromosome (2). • ...

We have performed linkage analysis in seven Italian families, in which mild osteogenesis imperfecta (OI) segregated as a dominant trait, by means of six DNA restriction fragment length polymorphisms (RFLPs) of type I collagen genes. OI type I was linked to the alpha 1(I) gene (COL1A1) in two families, and to the alpha 2(I) gene (COL1A2) in one family. OI type IV segregated with COL1A2 in two fa...