Reverse genetics and human disease

SH Orkin - Cell, 1986 - Elsevier
Until recently, molecular analysis of inherited disorders of man has proceeded largely
through identification and characterization of specific proteins and their corresponding …

Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map

ES Lander, D Botstein - Cold Spring Harbor Symposia on …, 1986 - symposium.cshlp.org
It has been clear since the rediscovery of Mendel that humans obey laws of heredity
identical with those of other organisms. The central features of Mendelism were observable …

Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms.

ES Lander, D Botstein - Proceedings of the National …, 1986 - National Acad Sciences
Simple single-gene disorders in humans can be genetically mapped by using traditional
methods of linkage analysis and increasingly abundant restriction fragment length …

The genetics of Alzheimer's disease: a review and a discussion of the implications

P Davies - Neurobiology of Aging, 1986 - Elsevier
This paper examines the evidence for a genetic etiology of Alzheimer's Disease. Three
groups of cases are identified; the first being those with a consistently early age of onset, in …

Pathological regulation of arachidonic acid release in cystic fibrosis: the putative basic defect.

J Carlstedt-Duke, M Brönnegård… - Proceedings of the …, 1986 - National Acad Sciences
The regulation of arachidonic acid release from membrane phospholipids was investigated
in lymphocytes from patients with cystic fibrosis as well as control patients. No effect of either …

Chromosomal assignment of the human erythropoietin gene and its DNA polymorphism.

ML Law, GY Cai, FK Lin, Q Wei… - Proceedings of the …, 1986 - National Acad Sciences
Erythropoietin (EPO), a glycoprotein hormone, is the major physiological regulator of
erythrocyte production in mammals. A cDNA clone containing the entire human EPO-coding …

Prenatal diagnosis in 200 pregnancies with a 1-in-4 risk of cystic fibrosis

A Boué, F Muller, C Nezelof, JF Oury, F Duchatel… - Human genetics, 1986 - Springer
Prenatal diagnosis of cystic fibrosis was performed in 200 pregnancies with a 1-in-4 risk,
and was based on significant modifications in amniotic fluid taken at 17, 18, 19 weeks of …

Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes …

HF Willard, JS Waye, MH Skolnick… - Proceedings of the …, 1986 - National Acad Sciences
We describe a general strategy for the detection of high-frequency restriction fragment
length polymorphisms in the centromeric regions of human chromosomes by molecular …

Linkage of cystic fibrosis to two tightly linked DNA markers: joint report from a collaborative study

A Beaudet, A Bowocock, M Buchwald… - American journal of …, 1986 - ncbi.nlm.nih.gov
A collaborative study involving seven research groups provided an opportunity to investigate
the linkage relationships between cystic fibrosis and two DNA marker loci, MET and pJ3. 11 …

First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes

M Farrall, CH Rodeck, P Stanier, W Lissens, E Watson… - The lancet, 1986 - Elsevier
Linkage analysis with cloned gene probes has shown that the mutation causing cystic
fibrosis is located in the middle of the long arm of chromosome 7. First-trimester diagnosis of …