Typing of 20 Y-chromosome STRs in the Italian population.

The aim of the present study is to appraise the increase of the discrimination power of the Y-specific haplotype allowed by 20 STR markers in a sample of the Italian population. The set of Y STR markers analyzed includes the European "extended haplotype" DYS19, DYS385, DYS389I/II, DYS390, DYS391, DYS392, DYS393 and YCAII a/b and in addition the DYS437, DYS438, DYS439, DYS447, DYS448, DYS388, DYS426, DYS460 (Y-GATA-A7.1) and Y-H4 loci.

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.

Congenital dyserythropoietic anemia of type II (CDA II) is a rare disorder, usually present in childhood, with a clinical picture of chronic anemia of mild to moderate degree, splenomegaly and intermittent or persistent jaundice. It is transmitted by autosomal recessive inheritance and is characterized by the presence of a large number of multinucleate and binucleate erythroblasts in the bone marrow and typical morphological abnormalities of the membrane of circulating erythrocytes. SDS-PAGE of red blood cell membrane proteins shows a narrower aspect and a faster migration of band 3 (anion exchange transporter).

Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II.

UDP-N-acetyl-D-glucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II (EC 2.4.1.

The signal for Golgi retention of bovine beta 1,4-galactosyltransferase is in the transmembrane domain.

The expression and localization of bovine beta 1,4-galactosyltransferase (Gal T) has been studied in mammalian cells transfected with Gal T cDNA constructs, and the role of the amino-terminal domains of Gal T in Golgi localization examined. Here we demonstrate that the transmembrane (signal/anchor) domain of bovine Gal T contains a positive Golgi retention signal. Bovine Gal T was characterized in transfected cells with anti-bovine Gal T antibodies, affinity-purified from a rabbit antiserum using a bacterial recombinant fusion protein.