Literature DB >> 3762959

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.

M A Pericak-Vance, L H Yamaoka, R I Assinder, W Y Hung, R J Bartlett, J M Stajich, P C Gaskell, D A Ross, S Sherman, G H Fey.   

Abstract

The cDNA and genomic probes for apolipoprotein C2 detect two restriction fragment length polymorphisms on chromosome 19. The combined estimated percentage of heterozygosity, assuming equilibrium, is approximately 75%, ie, apolipoprotein C2 is informative in 75% of matings. We have analyzed over 350 individuals in large multigenerational families for linkage of apolipoprotein C2 to myotonic muscular dystrophy. The maximum lod score was 16.29 with the maximum recombination fraction (theta) of 0.02, with 95% confidence limits for theta of 0.001 to 0.065. Thus, apolipoprotein C2 is useful in carrier detection and prenatal diagnosis with an accuracy of about 98%.

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Year:  1986        PMID： 3762959     DOI： 10.1212/wnl.36.11.1418

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

1.  The probabilistic determination of identity-by-descent sharing for pairs of relatives from pedigrees.

Authors:  C I Amos; D V Dawson; R C Elston
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

2.  Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage.

Authors:  M A Pericak-Vance; J L Bebout; P C Gaskell; L H Yamaoka; W Y Hung; M J Alberts; A P Walker; R J Bartlett; C A Haynes; K A Welsh
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

3.  Myotonic dystrophy and hyperparathyroidism: association with neurofibromatosis and multiple endocrine adenomatosis type 2A.

Authors:  N L Rosenberg; J H Diliberti; A M Andrews; N R Buist
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-12       Impact factor: 10.154

4.  Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.

Authors:  H J Smeets; H G Brunner; H H Ropers; B Wieringa
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

5.  3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

Authors:  M Gennarelli; G Novelli; A Cobo; M Baiget; B Dallapiccola
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).

Authors:  H G Brunner; R G Korneluk; M Coerwinkel-Driessen; A MacKenzie; H Smeets; H M Lambermon; B A van Oost; B Wieringa; H H Ropers
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

Review 7.  Diagnosis of genetic disease using recombinant DNA. Supplement.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1987-09       Impact factor: 4.132

8.  Familial inheritance of a DXS164 deletion mutation from a heterozygous female.

Authors:  J T Lanman; M A Pericak-Vance; R J Bartlett; J C Chen; L Yamaoka; J Koh; M C Speer; W Y Hung; A D Roses
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

9.  Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides.

Authors:  B Smeets; J Poddighe; H Brunner; H H Ropers; B Wieringa
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

10.  Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair.

Authors:  R L Stallings; E Olson; A W Strauss; L H Thompson; L L Bachinski; M J Siciliano
Journal:  Am J Hum Genet       Date:  1988-08       Impact factor: 11.025
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