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Volume 51(4);  1992 Oct

The cover of the journal

Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies.
S S Deeb, D T Lindsey, Y Hibiya, E Sanocki, J Winderickx, D Y Teller, A G Motulsky
Am J Hum Genet. 1992 Oct; 51(4): 687–700.
PMCID:
PMC1682812
Summary Page Browse PDF–2.2MCite
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.
S B Cassidy, L W Lai, R P Erickson, L Magnuson, E Thomas, R Gendron, J Herrmann
Am J Hum Genet. 1992 Oct; 51(4): 701–708.
PMCID:
PMC1682792
Summary Page Browse PDF–1.5MCite
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
H Northrup, D J Kwiatkowski, E S Roach, W B Dobyns, R A Lewis, G E Herman, E Rodriguez, Jr, S P Daiger, S H Blanton
Am J Hum Genet. 1992 Oct; 51(4): 709–720.
PMCID:
PMC1682771
Summary Page Browse PDF–1.7MCite
Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy.
L S Schwartz, J Tarleton, B Popovich, W K Seltzer, E P Hoffman
Am J Hum Genet. 1992 Oct; 51(4): 721–729.
PMCID:
PMC1682805
Summary Page Browse PDF–1.2MCite
Significant linkage disequilibrium between the Huntington disease gene and the loci D4S10 and D4S95 in the Dutch population.
M I Skraastad, E Van de Vosse, R Belfroid, K Höld, M Vegter-van der Vlis, L A Sandkuijl, E Bakker, G J van Ommen
Am J Hum Genet. 1992 Oct; 51(4): 730–735.
PMCID:
PMC1682784
Summary Page Browse PDF–751KCite
Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the southwest
Theresa A. Grebe, Winifred W. Doane, Sarah F. Richter, Carol Clericuzio, R. A. Norman, William K. Seltzer, Susan N. Rhodes, Bruce E. Goldberg, Lucy S. Hernried, Melody McClure, Gail Kaplan
Am J Hum Genet. 1992 Oct; 51(4): 736–740.
PMCID:
PMC1682804
Summary Page Browse PDF–623KCite
Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.
M G Sweeney, M B Davis, A Lashwood, M Brockington, A Toscano, A E Harding
Am J Hum Genet. 1992 Oct; 51(4): 741–748.
PMCID:
PMC1682819
Summary Page Browse PDF–891KCite
The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.
Y Li, B Müller, C Fuhrmann, C E van Nouhuys, H Laqua, P Humphries, E Schwinger, A Gal
Am J Hum Genet. 1992 Oct; 51(4): 749–754.
PMCID:
PMC1682793
Summary Page Browse PDF–654KCite
The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa.
O Riess, A Noerremoelle, B Weber, M A Musarella, M R Hayden
Am J Hum Genet. 1992 Oct; 51(4): 755–762.
PMCID:
PMC1682813
Summary Page Browse PDF–1.3MCite
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
M R Aust, L G Andrews, M J Barrett, C J Norby-Slycord, M L Markert
Am J Hum Genet. 1992 Oct; 51(4): 763–772.
PMCID:
PMC1682776
Summary Page Browse PDF–1.8MCite
Power of sib-pair and sib-trio linkage analysis with assortative mating and multiple disease loci.
W M Sribney, M Swift
Am J Hum Genet. 1992 Oct; 51(4): 773–784.
PMCID:
PMC1682815
Summary Page Browse PDF–1.5MCite
A survey of state insurance commissioners concerning genetic testing and life insurance.
J E McEwen, K McCarty, P R Reilly
Am J Hum Genet. 1992 Oct; 51(4): 785–792.
PMCID:
PMC1682778
Summary Page Browse PDF–1.3MCite
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: Implications for carrier screening
B. L. Triggs-Raine, E. H. Mules, M. M. Kaback, J. S. T. Lim-Steele, C. E. Dowling, B. R. Akerman, M. R. Natowicz, E. E. Grebner, R. Navon, J. P. Welch, C. R. Greenberg, G. H. Thomas, R. A. Gravel
Am J Hum Genet. 1992 Oct; 51(4): 793–801.
PMCID:
PMC1682803
Summary Page Browse PDF–1.4MCite
A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease.
P J Ainsworth, M B Coulter-Mackie
Am J Hum Genet. 1992 Oct; 51(4): 802–809.
PMCID:
PMC1682773
Summary Page Browse PDF–1.2MCite
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
G S He, G A Grabowski
Am J Hum Genet. 1992 Oct; 51(4): 810–820.
PMCID:
PMC1682814
Summary Page Browse PDF–2.2MCite
Identification of two different point mutations associated with the fluoride-resistant phenotype for human butyrylcholinesterase.
C P Nogueira, C F Bartels, M C McGuire, S Adkins, T Lubrano, H M Rubinstein, H Lightstone, A F Van der Spek, O Lockridge, B N La Du
Am J Hum Genet. 1992 Oct; 51(4): 821–828.
PMCID:
PMC1682781
Summary Page Browse PDF–1.4MCite
Lipoprotein(a) in women twins: heritability and relationship to apolipoprotein(a) phenotypes.
M A Austin, C Sandholzer, J V Selby, B Newman, R M Krauss, G Utermann
Am J Hum Genet. 1992 Oct; 51(4): 829–840.
PMCID:
PMC1682765
Summary Page Browse PDF–1.6MCite
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
W A Sweetman, B Rash, B Sykes, P Beighton, J T Hecht, B Zabel, J T Thomas, R Boot-Handford, M E Grant, G A Wallis
Am J Hum Genet. 1992 Oct; 51(4): 841–849.
PMCID:
PMC1682791
Summary Page Browse PDF–1.3MCite
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.
Z P Zhang, M Lindstedt, G Falk, M Blombäck, N Egberg, M Anvret
Am J Hum Genet. 1992 Oct; 51(4): 850–858.
PMCID:
PMC1682774
Summary Page Browse PDF–1.5MCite
Inter- and intrafamilial heterogeneity: effective sampling strategies and comparison of analysis methods.
M Durner, D A Greenberg, S E Hodge
Am J Hum Genet. 1992 Oct; 51(4): 859–870.
PMCID:
PMC1682807
Summary Page Browse PDF–1.5MCite
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
S Strautnieks, P Rutland, R M Winter, M Baraitser, S Malcolm
Am J Hum Genet. 1992 Oct; 51(4): 871–878.
PMCID:
PMC1682779
Summary Page Browse PDF–1.5MCite
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12.
M Ramsay, M A Colman, G Stevens, E Zwane, J Kromberg, M Farrall, T Jenkins
Am J Hum Genet. 1992 Oct; 51(4): 879–884.
PMCID:
PMC1682821
Summary Page Browse PDF–993KCite
J.B.S. Haldane (1892-1964): centennial appreciation of a polymath.
K R Dronamraju
Am J Hum Genet. 1992 Oct; 51(4): 885–889.
PMCID:
PMC1682816
Summary Page Browse PDF–973KCite
On the relationship between academic and private genetic services.
M E Trigg, M R Geier
Am J Hum Genet. 1992 Oct; 51(4): 890–891.
PMCID:
PMC1682777
Summary Page Browse PDF–297KCite
Survival of academic-based genetic laboratory services.
R J Warren
Am J Hum Genet. 1992 Oct; 51(4): 892–893.
PMCID:
PMC1682775
Summary Page Browse PDF–342KCite
Descent into demonology and protectionism.
F Hecht, B K Hecht
Am J Hum Genet. 1992 Oct; 51(4): 893–895.
PMCID:
PMC1682780
Summary Page Browse PDF–325KCite
Reply to Hecht and Hecht, Trigg and Geier, and Warren
Aubrey Milunsky
Am J Hum Genet. 1992 Oct; 51(4): 894–895.
PMCID:
PMC1682783
Summary Page Browse PDF–312KCite
Genetic discrimination and the Americans with Disabilities Act.
M R Natowicz, J K Alper, J S Alper
Am J Hum Genet. 1992 Oct; 51(4): 895–897.
PMCID:
PMC1682787
Summary Page Browse PDF–492KCite
Genetic distinctions are not necessarily examples of genetic discrimination.
E B Hook
Am J Hum Genet. 1992 Oct; 51(4): 897–899.
PMCID:
PMC1682795
Summary Page Browse PDF–310KCite
Reply to Natowicz et al
Neil A. Holtzman, Mark A. Rothstein
Am J Hum Genet. 1992 Oct; 51(4): 897.
PMCID:
PMC1682788
Summary Page Browse PDF–148KCite
Reply to Hook: genetic discrimination and public safety.
Marvin R Natowicz, Jane K Alper, Joseph S Alper
Am J Hum Genet. 1992 Oct; 51(4): 898–899.
PMCID:
PMC1682802
Summary Page Browse PDF–319KCite
Muddling genetic discrimination.
E B Hook
Am J Hum Genet. 1992 Oct; 51(4): 899–905.
PMCID:
PMC1682810
Summary Page Browse PDF–502KCite
Genetic discrimination and insurance underwriting.
J A Lowden
Am J Hum Genet. 1992 Oct; 51(4): 901–905.
PMCID:
PMC1682808
Summary Page Browse PDF–518KCite
Reply to Hook and Lowden: the definition and implications of genetic discrimination.
Paul R Billings, Joseph S Alper, Jon Beckwith, Carol I Barash, Marvin R Natowicz
Am J Hum Genet. 1992 Oct; 51(4): 903–905.
PMCID:
PMC1682818
Summary Page Browse PDF–534KCite
Perils of gene mapping with microsatellite markers.
J A Knowles, V J Vieland, T C Gilliam
Am J Hum Genet. 1992 Oct; 51(4): 905–909.
PMCID:
PMC1682769
Summary Page Browse PDF–921KCite
Abuse of genetics in Nazi Germany.
P Propping
Am J Hum Genet. 1992 Oct; 51(4): 909–910.
PMCID:
PMC1682782
Summary Page Browse PDF–346KCite
Minimum qualifications for directors: DNA-based genetic-testing laboratories. DNA Testing Subcommittee, Quality Assurance Committee, Council of Regional Networks for Genetic Services.
P Murphy, J Amos, N Carpenter, R Fenwick, M E Hodes, T Kelly, K Matteson, W Seltzer, J E Spence, S Thibodeau, et al.
Am J Hum Genet. 1992 Oct; 51(4): 910–912.
PMCID:
PMC1682786
Summary Page Browse PDF–330KCite
Geneticists' responsibility to other health care professionals and to the lay public.
K L Garver, K LeChien
Am J Hum Genet. 1992 Oct; 51(4): 922–923.
PMCID:
PMC1682767
Summary Page Browse PDF–255KCite
Genethics: project accountability via evaluation of teacher and student growth.
J R Hendrix, T R Mertens
Am J Hum Genet. 1992 Oct; 51(4): 924–929.
PMCID:
PMC1682772
Summary Page Browse PDF–900KCite
A problem-based learning approach to teaching medical genetics.
C M Moore, D R Barnett
Am J Hum Genet. 1992 Oct; 51(4): 930–935.
PMCID:
PMC1682799
Summary Page Browse PDF–804KCite
Twice-told tales: stories about genetic disorders.
A Lippman, B S Wilfond
Am J Hum Genet. 1992 Oct; 51(4): 936–937.
PMCID:
PMC1682820
Summary Page Browse PDF–201KCite
A candid look at Down syndrome.
R C Baumiller
Am J Hum Genet. 1992 Oct; 51(4): 938–939.
PMCID:
PMC1682770
Summary Page Browse PDF–198KCite

Book Reviews

Coevolution: Genes, culture, and human diversity
Barton Childs
Am J Hum Genet. 1992 Oct; 51(4): 913–915.
PMCID:
PMC1682789
Summary Page Browse PDF–535KCite
Peroxisomes: A personal account
Hugo W. Moser
Am J Hum Genet. 1992 Oct; 51(4): 915–916.
PMCID:
PMC1682800
Summary Page Browse PDF–378KCite
Advanced techniques in chromosome research
Orlando J. Miller
Am J Hum Genet. 1992 Oct; 51(4): 916–917.
PMCID:
PMC1682806
Summary Page Browse PDF–370KCite
Analysis of human genetic linkage
Michael Boehnke
Am J Hum Genet. 1992 Oct; 51(4): 917–918.
PMCID:
PMC1682811
Summary Page Browse PDF–377KCite
Risky business: Genetic testing and exclusionary practices in the hazardous workplace
Neil A. Holtzman
Am J Hum Genet. 1992 Oct; 51(4): 918–919.
PMCID:
PMC1682817
Summary Page Browse PDF–360KCite
Congenital malformations worldwide: A report from the international clearinghouse for birth defect monitoring systems
Ernest B. Hook
Am J Hum Genet. 1992 Oct; 51(4): 919–920.
PMCID:
PMC1682766
Summary Page Browse PDF–337KCite
Generation games: Genetics engineering and the future of our lives
Florence Haseltine
Am J Hum Genet. 1992 Oct; 51(4): 920–921.
PMCID:
PMC1682768
Summary Page Browse PDF–209KCite

Corrections

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.
Am J Hum Genet. 1992 Oct; 51(4): 942.
Corrects:
Am J Hum Genet. 1992 May; 50(5): 896–901.
PMCID:
PMC1682798
Correction PDF–64KCite
Errata
Am J Hum Genet. 1992 Oct; 51(4): 942.
Corrects:
Am J Hum Genet. 1991 Dec; 49(6): 1155–1166.
PMCID:
PMC1682794
Correction PDF–64KCite
Errata
Am J Hum Genet. 1992 Oct; 51(4): 942.
Corrects:
Am J Hum Genet. 1992 Jul; 51(1): 10–16.
PMCID:
PMC1682801
Correction PDF–64KCite
Errata
Am J Hum Genet. 1992 Oct; 51(4): 942.
Corrects:
Am J Hum Genet. 1992 Jul; 51(1): 135–142.
PMCID:
PMC1682809
Correction PDF–64KCite

Journal Matter

Original table of contents page
PDF–279K
Administrative content — journal masthead, notices, indexes, etc.
PDF–1.5M
Advertisements
PDF–2.0M
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics