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HLA haplotype segregation and ultrastructural study in familial immotile-cilia syndrome
Authors:Elena Bianchi  Salvatore Savasta  Alberto Calligaro  Giampiero Beluffi  Paola Poggi  Marco Tinelli  Emilio Mevio  Miryam Martinetti
Institution:(1) Division of Genetics, Children's Hospital and Department of Pediatrics, Harvard Medical School, 02115 Boston, MA, USA;(2) Imperial Cancer Research Fund Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital, OX3 9DU Oxford, UK;(3) Present address: Institut für Humangenetik, Justus-Liebig-Universität, W-6300 Giessen, Federal Republic of Germany
Abstract:Five dinucleotide tandem repeat (DNTR) sequences were isolated from yeast artificial chromosomes containing the PGK1 and DXS56 loci in Xq13. Sequence information of these DNTR loci is given. Four of the five DNTR sequences were polymorphic. Polymorphism information content values were 0.44, 0.49, 0.47, and 0.76 for loci PY5-10, PY2-31, 4548-1, and 4548-7, respectively. Corresponding heterozygosities were 0.55, 0.55, 0.56, and 0.78. These DNTRs are useful for the fine mapping of disease loci in Xq13 and provide sequence tagged sites for this region of the X chromosome.
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