Literature DB >> 1505962

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

A H Beggs1, H A Phillips, H Kozman, J C Mulley, S D Wilton, L M Kunkel, N G Laing.   

Abstract

A CA dinucleotide repeat polymorphism has been identified for the skeletal muscle alpha-actinin gene ACTN2. The observed heterozygosity is 44% (predicted heterozygosity 50%, PIC 0.47). This polymorphic marker has been localized between D1S74 and D1S103 on the multipoint linkage map of chromosome 1 at a position 44.4 cM from the most distal marker D1S68 at 1 qter.

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Year:  1992        PMID： 1505962     DOI： 10.1016/0888-7543(92)90054-v

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


  3 in total

1.  Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

Authors:  E Tahvanainen; A H Beggs; C Wallgren-Pettersson
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

2.  Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.

Authors:  F L Mastaglia; K J Nowak; R Stell; B A Phillips; J E Edmondston; S M Dorosz; S D Wilton; J Hallmayer; B A Kakulas; N G Laing
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-08       Impact factor: 10.154

3.  Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Authors:  K Fukai; J Oh; M A Karim; K J Moore; H H Kandil; H Ito; J Bürger; R A Spritz
Journal:  Am J Hum Genet       Date:  1996-09       Impact factor: 11.025
  3 in total

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