132 Identification of novel pathways linked to the pathogenesis of Recessive X-Linked Ichthyosis

Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene

Objective(s):To determine the fetal discernment in suspected cases of sex linked recessive disease in the first trimester of pregnancy. Materials and Methods: After collection of 100 Chorionic Villi samples, the DNAs were extracted and baby gender was determined. Meanwhile, after increasing the sensitivity, the system was able to detect the sex of each cell which was obtained by biopsy. Resul...

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

Patients with recessive X-linked ichthyosis, one of the inherited types of excessive stratum corneum cohesion, have deficient steroid sulfatase in fibroblasts grown from their dermis. Because of the expense and long period required to grow such cells, we have assayed this enzyme in peripheral blood leukocytes and found it to be undetectable in those from patients with this type of ichthyosis, b...

Mechanisms in the association of cryptorchidism and X-linked recessive ichthyosis.

Diagnosis of recessive X-linked ichthyosis: quantitative HPLC/mass spectrometric analysis of plasma for cholesterol sulfate.

A specific, accurate liquid-chromatographic/mass-spectrometric (HPLC/MS) method for measurement of cholesterol sulfate in plasma from normal individuals and patients with recessive X-linked ichthyosis (RXLI) is described. The method is superior to previously described techniques because it measures the analyte intact rather than after hydrolysis. Traces of free cholesterol in the sample analyze...

Identification of DNA Markers Linked to Blooming Time in Almond

In this study flowering time and other important morphologic traits were evaluated during two years in F1 almond progenies of seventy two seedlings from cross between the intermediate flowering Italian cultivar ‘Tuono’ and the extra-late blooming Iranian cultivar ‘Shahrood-12’. A modified-bulk segregant analysis in combination with the application of the 140 RAPD primers, 87 nuclear ...