Literature DB >> 2575581

Multilocus linkage analysis with the human argininosuccinate synthetase gene.

H Northrup1, M Lathrop, S Y Lu, S P Daiger, A L Beaudet, W E O'Brien.   

Abstract

We have identified three restriction fragment length polymorphisms (RFLPs) from within the argininosuccinate synthetase (ASS) gene which maps to human chromosome 9q34-qter. Although RFLPs at pseudogene loci are detected by the cDNA, these are the first polymorphisms reported at the ASS locus. The three RFLPs are in linkage equilibrium with each other, and haplotypes for the ASS locus are highly informative. Two-locus recombination estimates between ASS and seven other 9q markers indicated that ASS is closest to the ABO blood group with a recombination fraction of 0.04 (0.005-0.11). A multilocus lod score analysis with these seven 9q markers indicated that ASS maps between ABL and MCT136 close to ABO, but it is uncertain if ASS is centromeric or telomeric to ABO.

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Year:  1989        PMID: 2575581     DOI: 10.1016/0888-7543(89)90007-4

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  13 in total

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2.  CA repeat polymorphism at the ASS locus.

Authors:  M A Yuille; R M Hampson; R M Harris; N A Affara; J R Yates; M A Ferguson-Smith
Journal:  Nucleic Acids Res       Date:  1990-12-25       Impact factor: 16.971

Review 3.  Mouse chromosome 2.

Authors:  L D Siracusa; C M Abbott
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Review 4.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

5.  Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.

Authors:  D Schuback; P Kramer; L Ozelius; G Holmgren; L Forsgren; M Kyllerman; J Wahlström; C M Craft; T Nygaard; M Brin
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

Review 6.  Transcriptional regulation of genes for ornithine cycle enzymes.

Authors:  M Takiguchi; M Mori
Journal:  Biochem J       Date:  1995-12-15       Impact factor: 3.857

7.  A search for the primary abnormality in adult-onset type II citrullinemia.

Authors:  K Kobayashi; N Shaheen; R Kumashiro; K Tanikawa; W E O'Brien; A L Beaudet; T Saheki
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8.  Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia.

Authors:  K Kobayashi; H Kakinoki; T Fukushige; N Shaheen; H Terazono; T Saheki
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Retroviral-mediated gene therapy for the treatment of citrullinemia. Transfer and expression of argininosuccinate synthetase in human hematopoietic cells.

Authors:  J Demarquoy
Journal:  Experientia       Date:  1993-04-15

10.  Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Authors:  D J Kwiatkowski; T G Nygaard; D E Schuback; S Perman; J M Trugman; S B Bressman; R E Burke; M F Brin; L Ozelius; X O Breakefield
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

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