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Volume 48(6);  1991 Jun

The cover of the journal

The genetics of Alzheimer disease--a teasing problem.
J L Haines
Am J Hum Genet. 1991 Jun; 48(6): 1021–1025.
PMCID:
PMC1683110
Summary Page Browse PDF–801KCite
Segregation analysis reveals evidence of a major gene for Alzheimer disease.
L A Farrer, R H Myers, L Connor, L A Cupples, J H Growdon
Am J Hum Genet. 1991 Jun; 48(6): 1026–1033.
PMCID:
PMC1683119
Summary Page Browse PDF–1.3MCite
Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage
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, N. L. Earl, A. Heyman, C. M. Clark, A. D. Roses
Am J Hum Genet. 1991 Jun; 48(6): 1034–1050.
PMCID:
PMC1683100
Summary Page Browse PDF–1.7MCite
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
R I Richards, Y Shen, K Holman, H Kozman, V J Hyland, J C Mulley, G R Sutherland
Am J Hum Genet. 1991 Jun; 48(6): 1051–1057.
PMCID:
PMC1683096
Summary Page Browse PDF–1.4MCite
A note on multiple testing procedures in linkage analysis.
N Risch
Am J Hum Genet. 1991 Jun; 48(6): 1058–1064.
PMCID:
PMC1683115
Summary Page Browse PDF–917KCite
Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease.
P Zuppan, J M Hall, M K Lee, M Ponglikitmongkol, M C King
Am J Hum Genet. 1991 Jun; 48(6): 1065–1068.
PMCID:
PMC1683085
Summary Page Browse PDF–506KCite
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.
J C Wang, M B Passage, P H Yen, L J Shapiro, T K Mohandas
Am J Hum Genet. 1991 Jun; 48(6): 1069–1074.
PMCID:
PMC1683099
Summary Page Browse PDF–1.5MCite
Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
V V Ionasescu, J Trofatter, J L Haines, A M Summers, R Ionasescu, C Searby
Am J Hum Genet. 1991 Jun; 48(6): 1075–1083.
PMCID:
PMC1683112
Summary Page Browse PDF–1.1MCite
Genetic risks for children of women with myotonic dystrophy.
M C Koch, T Grimm, H G Harley, P S Harper
Am J Hum Genet. 1991 Jun; 48(6): 1084–1091.
PMCID:
PMC1683098
Summary Page Browse PDF–1.2MCite
Genetic and environmental explanations for the distribution of sodium-lithium countertransport in pedigrees from Rochester, MN.
T R Rebbeck, S T Turner, V V Michels, P P Moll
Am J Hum Genet. 1991 Jun; 48(6): 1092–1104.
PMCID:
PMC1683120
Summary Page Browse PDF–1.8MCite
Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
R P Carstens, W A Fenton, L R Rosenberg
Am J Hum Genet. 1991 Jun; 48(6): 1105–1114.
PMCID:
PMC1683104
Summary Page Browse PDF–1.9MCite
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
P Labrune, D Melle, F Rey, M Berthelon, C Caillaud, J Rey, A Munnich, S Lyonnet
Am J Hum Genet. 1991 Jun; 48(6): 1115–1120.
PMCID:
PMC1683114
Summary Page Browse PDF–1.2MCite
Congenital deficiency of a 20-kDa subunit of mitochondrial complex I in fibroblasts.
D M Slipetz, P R Goodyer, R Rozen
Am J Hum Genet. 1991 Jun; 48(6): 1121–1126.
PMCID:
PMC1683088
Summary Page Browse PDF–1.0MCite
Screening for non-delta F508 mutations in five exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in Italy.
M Devoto, P Ronchetto, P Fanen, J J Orriols, G Romeo, M Goossens, M Ferrari, C Magnani, M Seia, L Cremonesi
Am J Hum Genet. 1991 Jun; 48(6): 1127–1132.
PMCID:
PMC1683105
Summary Page Browse PDF–840KCite
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.
V Verga, B K Hall, S R Wang, S Johnson, J V Higgins, T W Glover
Am J Hum Genet. 1991 Jun; 48(6): 1133–1138.
PMCID:
PMC1683080
Summary Page Browse PDF–1.3MCite
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
B H Paw, L C Wood, E F Neufeld
Am J Hum Genet. 1991 Jun; 48(6): 1139–1146.
PMCID:
PMC1683090
Summary Page Browse PDF–1.4MCite
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
K Huoponen, J Vilkki, P Aula, E K Nikoskelainen, M L Savontaus
Am J Hum Genet. 1991 Jun; 48(6): 1147–1153.
PMCID:
PMC1683111
Summary Page Browse PDF–1.1MCite
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
H Okayama, M Brantly, M Holmes, R G Crystal
Am J Hum Genet. 1991 Jun; 48(6): 1154–1158.
PMCID:
PMC1683089
Summary Page Browse PDF–1.0MCite
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.
L B Giebel, R K Tripathi, K M Strunk, J M Hanifin, C E Jackson, R A King, R A Spritz
Am J Hum Genet. 1991 Jun; 48(6): 1159–1167.
Correction in:
Am J Hum Genet. 1991 Sep; 49(3): 696.
PMCID:
PMC1683101
Summary Page Browse PDF–2.2MCite
Identification of a splice-site mutation in the human growth hormone-variant gene.
J N MacLeod, S A Liebhaber, M H MacGillivray, N E Cooke
Am J Hum Genet. 1991 Jun; 48(6): 1168–1174.
PMCID:
PMC1683121
Summary Page Browse PDF–1.3MCite
G gamma and A gamma globin genes are identical from -471 of the promoter midway through gamma IVSII in a Benin beta s haplotype associated with elevated fetal hemoglobin.
N Mishima, E C Brinson, P F Milner, J G Gilman
Am J Hum Genet. 1991 Jun; 48(6): 1175–1180.
PMCID:
PMC1683092
Summary Page Browse PDF–901KCite
A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients.
E H Mules, C E Dowling, M B Petersen, H H Kazazian, Jr, G H Thomas
Am J Hum Genet. 1991 Jun; 48(6): 1181–1185.
PMCID:
PMC1683116
Summary Page Browse PDF–826KCite
A single base mutation in type I procollagen (COL1A1) that converts glycine alpha 1-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR.
J P Zhuang, C D Constantinou, A Ganguly, D J Prockop
Am J Hum Genet. 1991 Jun; 48(6): 1186–1191.
PMCID:
PMC1683081
Summary Page Browse PDF–1.1MCite
Review and hypothesis: Alzheimer disease and Down syndrome--chromosome 21 nondisjunction may underlie both disorders.
H Potter
Am J Hum Genet. 1991 Jun; 48(6): 1192–1200.
PMCID:
PMC1683102
Summary Page Browse PDF–1.6MCite
Genetics and public health: means, ends, and justices.
A Lippman
Am J Hum Genet. 1991 Jun; 48(6): 1201–1203.
PMCID:
PMC1683079
Summary Page Browse PDF–284KCite
Reply to Lippman
George C. Cunningham
Am J Hum Genet. 1991 Jun; 48(6): 1202.
PMCID:
PMC1683083
Summary Page Browse PDF–162KCite
Update on maternal serum alpha-fetoprotein screening.
K L Garver
Am J Hum Genet. 1991 Jun; 48(6): 1203–1204.
PMCID:
PMC1683084
Summary Page Browse PDF–324KCite
Reply to Lippman
Jessica G. Davis
Am J Hum Genet. 1991 Jun; 48(6): 1203.
PMCID:
PMC1683082
Summary Page Browse PDF–159KCite
Ethics of a genetic program for myotonic dystrophy.
C M Laberge
Am J Hum Genet. 1991 Jun; 48(6): 1204–1206.
PMCID:
PMC1683086
Summary Page Browse PDF–499KCite
Can a susceptibility locus for schizophrenia be excluded from chromosome 5q11-13?
C I Amos, M Martinez, S J Bale
Am J Hum Genet. 1991 Jun; 48(6): 1206–1209.
PMCID:
PMC1683107
Summary Page Browse PDF–510KCite
Reply to Laberge
Marc De Braekeleer, Marcel J. Melançon
Am J Hum Genet. 1991 Jun; 48(6): 1206.
PMCID:
PMC1683103
Summary Page Browse PDF–150KCite
Reply to Amos et al
Peter McGuffin, Matthew Sargent, Simon Tidmarsh, Gillian Hetti, Stephen Whatley, R. M. Marchbanks
Am J Hum Genet. 1991 Jun; 48(6): 1208–1209.
PMCID:
PMC1683093
Summary Page Browse PDF–329KCite
Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.
D R Johns
Am J Hum Genet. 1991 Jun; 48(6): 1209–1213.
PMCID:
PMC1683097
Summary Page Browse PDF–467KCite
Reply to Johns
Neil Howell, David McCullough
Am J Hum Genet. 1991 Jun; 48(6): 1211–1213.
PMCID:
PMC1683108
Summary Page Browse PDF–516KCite
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy.
A L Beaudet, R G Perciaccante, G R Cutting
Am J Hum Genet. 1991 Jun; 48(6): 1213.
PMCID:
PMC1683113
Summary Page Browse PDF–155KCite
Allan-Herndon syndrome--or X-linked cerebral palsy?
S Bundey, L A Comley, A Blair
Am J Hum Genet. 1991 Jun; 48(6): 1214.
PMCID:
PMC1683117
Summary Page Browse PDF–169KCite
Human error in forensic DNA typing.
R Higuchi
Am J Hum Genet. 1991 Jun; 48(6): 1215–1216.
PMCID:
PMC1683094
Summary Page Browse PDF–200KCite

Book Reviews

Human prenatal diagnosis
Melissa H. Fries
Am J Hum Genet. 1991 Jun; 48(6): 1217–1218.
PMCID:
PMC1683106
Summary Page Browse PDF–270KCite
Schizophrenia genesis: The origins of madness
F. Vogel
Am J Hum Genet. 1991 Jun; 48(6): 1218.
PMCID:
PMC1683109
Summary Page Browse PDF–132KCite

Journal Matter

Original table of contents page
PDF–227K
Administrative content — journal masthead, notices, indexes, etc.
PDF–4.2M
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PDF–872K
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics