Physical mapping strategies are being employed for an analysis of the fragile X site region. Deletion breakpoints which may be close to the fragile site appear to be at a distance of at least several hundred kb from the nearest DNA probes. Further evidence is found for physical linkage between St14 (DXS52), DX13 (DXS15) and MN12 (DXS33). The data indicate differences in CG content and/or methylation levels between the distal and proximal sides of the fragile site.

Chromosome Deletion↗

PubMedDate not supplied

Polycystic liver disease: a study of cyst fluid constituents.

Cyst fluid from a patient with polycystic liver disease was obtained by needle aspiration using ultrasound guidance. The constituents of the fluid resembled the "bile salt-independent" fraction of human bile and supports the hypothesis that such cysts are lined by a functioning, secretory bile duct epithelium.

Amino Acids↗

PubMedDate not supplied

Molecular analysis of human muscular dystrophies.

The ability to map disease loci using restriction fragment length polymorphisms (RFLPs) identified by DNA probes has revolutionized molecular genetics. Duchenne and Becker muscular dystrophies have been shown to be localized within the same very small region of Xp21 on the human X chromosome. The mutation itself should soon be identified at the DNA level, which will permit a detailed analysis of the molecular defect at the biochemical level. Rapid progress has also been made in the study of myotonic dystrophy on chromosome 19. DNA markers closely linked to the mutant locus have been identified, making antenatal diagnosis possible in informative families. Autosomal recessive muscular dystrophies are more difficult to study, but the means to localize even these mutations is being developed. The next decade should prove to be an exciting one for those involved in the molecular analysis and clinical management of human muscular dystrophies.

Chromosome Mapping↗

PubMedDate not supplied

Diego antibodies.

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Blood Group Antigens↗

PubMedDate not supplied

Rearrangement of valproate glucuronide in a patient with drug-associated hepatobiliary and renal dysfunction.

Formation of beta-glucuronidase-resistant "glucuronides" of valproic acid (VPA) by intramolecular rearrangement of biosynthetic valproate glucuronide in vivo was investigated in a patient diagnosed with VPA-associated hepatobiliary and renal dysfunction. Plasma elimination half-life of VPA following cessation of the drug was 13.9 h. At the time of the toxicity, the concentration of conjugated VPA in plasma was very high (36-54% of nonconjugated VPA levels) relative to that in normal patients (2.9%). The fraction of conjugated VPA resistant to beta-glucuronidase hydrolysis was 0.28-0.47 in plasma and 0.15-0.42 in urine. The corresponding fraction in urine from normal patients receiving VPA therapy was 0.044. The evidence was consistent with retarded elimination of biosynthetic VPA glucuronide caused by renal and hepatobiliary dysfunction. Consequent prolongation of circulation of VPA glucuronide at the slightly alkaline pH of blood would permit extensive intramolecular rearrangement which is known to be pH-, temperature-, and time-dependent. The biological consequences of the presence of such beta-glucuronidase-resistant conjugated VPA in vivo are largely unknown.

Adolescent↗

PubMedDate not supplied

[Serology of treponematoses in certain populations of the Argentinian Chaco].

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Adolescent↗