Positional cloning: Let's not call it reverse anymore

  title={Positional cloning: Let's not call it reverse anymore},
  author={Francis S Collins},
  journal={Nature Genetics},
  • F. Collins
  • Published 1 April 1992
  • Biology, Medicine
  • Nature Genetics
Molecular genetic investigation of autosomal dominant muscular dystrophy
This thesis contributes to the Human Genome Project by adding detail to the physical and genetic maps of the human genome, and by identifying a strong candidate gene for a form of distal myopathy.
Molecular genetics of the 1q23.3 schizophrenia susceptibility locus
Allelic and haplotypic associations with schizophrenia were found with three microsatellite and four SNP markers within the serine threonine kinase (UHMK1) gene, and further confirmation of the involvement of this gene in schizophrenia is needed.
Genetic studies on recurrent miscarriage
This study presents a meta-analysis of the mitochondrial genome of mice as a model organism and the identification of genetic causes underlying RM, which confirmed the nature of a new genetic variation for the first time.
Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease
To identify the disease genes behind the cone-rod dystrophy and AIED phenotypes, and to determine the functional consequences of the mutations identifi ed, the aims of this study were to map the disease gene in a large Finnish family with X-linked cone- Rod Dystrophy, and discover a novel CACNA1F gene mutation in AIED patients.
The molecular basis of Marinesco-Sjögren syndrome
Comparison of the power and accuracy of biallelic and microsatellite markers in population-based gene-mapping methods.
A mathematical framework and the analytical formulas for calculation of the power and the accuracy are developed and the impact that factors, such as the age of the disease mutation, the magnitude of the genetic effect, the marker-allele distribution in the population, mutation rates of marker loci, the frequency of the Disease allele, the recombination fraction, and the methods for mapping the human disease genes are investigated.
Protocols for trapping internal and 3'-terminal exons.


Identification of the cystic fibrosis gene: genetic analysis.
Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
A deletion of three base pairs that results in the omission of a phenylalanine residue at the center of the first predicted nucleotide-binding domain was detected in CF patients.
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.
Increases in the size of the allele in patients with DM are now shown to be due to an increased number of trinucleotide CTG repeats in the 3' untranslated region of a DM candidate gene.
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.
This procedure utilizes simultaneous genomic DNA amplification of multiple widely separated sequences and should permit deletion scanning at any hemizygous locus and it is demonstrated the application of this multiplex reaction for prenatal and postnatal diagnosis of DMD.
Defined physical limits of the Huntington disease gene candidate region.
The proximal gap is closed, the maximum size of which can now be placed accurately at 2.5 Mb, and the proximal boundary for the HD candidate region centromeric is moved to the gap within a "hot spot" for recombination between D 4S10 and D4S125.