Three peaks in the polymerase chain reaction fragile X analysis.

Objective: To report and discuss the observation of three fragments on polymerase chain reaction (PCR) in routine carrier screening for fragile X.

Methods: From 2005 through 2010, 34,500 women underwent prenatal screening for fragile X. PCR was carried out to amplify the repeat segment.

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.

Purpose: A retrospective population study was conducted to determine the carrier frequencies of recently identified mutations in Oriental Jewish cystic fibrosis patients.

Methods: Data were collected from 10 medical centers that screened the following mutations: two splice site mutations-3121-1G>A and 2751 + 1insT-and one nonsense mutation-the Y1092X in Iraqi Jews. One missense mutation, I1234V, was screened in Yemenite Jews.

Molecular analysis of an extended Palestinian family from Israel with monilethrix.

We describe the molecular analysis of a large three generation Palestinian family segregating for monilethrix. Previous reports have shown that mutations in type-II hair cortex keratin genes, hHb1 and hHb6, are associated with monilethrix. Genetic linkage analysis performed on this family using markers flanking the hHb6 gene exhibited strong evidence for linkage.

Point mutation in avian sarcoma leukaemia virus protease which increases its activity but impairs infectious virus production.

The retrovirus protease (PR), an aspartic PR, is composed of two identical subunits, each containing a conserved tripeptide sequence present at the active site of the enzyme. Asp-Ser-Gly is found in avian sarcoma leukaemia viruses (ASLV) and Asp-Thr-Gly in mammalian oncoretroviruses. We have mutated the conserved sequence at the active site of ASLV PR by converting the Ser and Gly residues to Thr and Ala, respectively.

Genetic and molecular studies of apterous: a gene implicated in the juvenile hormone system of Drosophila.

The apterous (ap) gene in Drosophila melanogaster encodes a homeodomain transcription factor. It is required for the development of the wings and of a subset of embryonic muscles. The gene has been implicated in the juvenile hormone (JH) system because mutations in ap lead to JH deficiency, and are associated with defective histolysis of the larval fat body, arrested vitellogenesis, sterility, and aberrant sexual behavior, all of which are dependent on JH.

Formation of cadaverine as an effect of alpha-difluoromethylornithine on chick embryo fibroblasts transformed by rous sarcoma virus.

Chick embryo fibroblasts grew normally in the presence of 1 X 10(-3) to 10 X 10(-3) M alpha-difluoromethylornithine (DFMO). This drug did not interfere with protein and DNA synthesis of normal fibroblasts and of cells transformed by Rous sarcoma virus. The morphological appearance of normal and transformed cells was not altered by DFMO, as determined by scanning electron microscopy.