P. J. L. Cook

Bio: P. J. L. Cook is an academic researcher from University College London. The author has contributed to research in topics: Locus (genetics) & Linkage (software). The author has an hindex of 19, co-authored 38 publications receiving 1060 citations.

Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype

Abstract: In a study of human red cell adenosine deaminase (ADA) three different types of isozyme patterns were identified (Spencer, Hopkinson & Harris, 1968). One phenotype designated ADA 1 was found in about 89 % of the English population, the second phenotype, ADA 2-1, was found in about 11 yo of the population and the third phenotype, designated ADA 2, was seen only once in a survey of 580 unrelated English people. Sixty-seven families were studied and the family data suggested that the three ADA phenotypes were determined by two autosomal alleles ADA1 and ADA2; phenotypes ADA 1 and ADA 2 corresponding to the homozygous genotypes ADAlADAl and ADAaADA2 respectively and phenotype ADA 2-1 corresponding to the heterozygous combination ADA1ADA2. This paper contains further family data and more extensive population data on the ADA polymorphism and also a description of a new phenotype.

Pulmonary Emphysema and α1-Antitrypsin Deficiency

Abstract: Of 72 patients with radiological evidence of pulmonary emphysema, emphysema occurred either alone or in association with bronchitis in 61, and 8 of these (13%) were found to have α1-antitrypsin deficiency. The main features of this condition are: exertional dyspnoea of relatively early onset (generally between 30 and 45 years of age), severely impaired FEV1 and TLCO, and radiological emphysema predominantly affecting the lower zones of the lungs. It is probable that any patient with all the above abnormalities has α1-antitrypsin deficiency. There is evidence to suggest that cigarette smoking may hasten the onset of this type of emphysema.

The genetics of alpha1-antitrypsin: a family study in England and Scotland.

Abstract: The results of Pi typing 5237 unrelated Caucasians are presented, together with the phenotypes of 2203 children from 1156 families. The estimate of the gene frequencies in the United Kingdom are Pi-M equal 0-9303, Pi-S equal 0-050, Pi-Z equal 0-0141, Pi-minus equal 0-0015, Pi-V equal 0-0004. Evidence for three new alleles, Pi-W2, Pi-Y2 is presented. The results of twin studies and quantitative studies are discussed.

Linkage of Chido and HL‐A

Abstract: Of 156 families who were HL-A typed and Chido-typed, 15 were found to be suitable for linkage analysis. It was calculated that the odds in favour of linkage of Chido and HL-A are 1,450,000:1. The maximum likelihood estimate of the Chido:1.HL-A recombination fraction is 2½% with 95% confidence limits, obtained graphically, of 0 and 12%; the estimate of the Chido:2.HL-A recombination fraction is 1½%, with limits of 0 and 9%. Among Chido negative subjects, the antigens HL-A12 and W5 occurred more frequently than in a control population.

Studies on a family with three cytogenetic markers

Abstract: Herdiw (in the Press). marriage and classified by ABO blood group. A m . Hum. Genet. 22, 166. histories collected in a Medical Genetics Unit. Am. J . Hum. Genet. 16, 1.

Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Abstract: We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA. Each of these probes will define a locus. Loci can be expanded or contracted to include more or less polymorphism by further application of recombinant DNA technology. Suitably polymorphic loci can be tested for linkage relationships in human pedigrees by established methods; and loci can be arranged into linkage groups to form a true genetic map of "DNA marker loci." Pedigrees in which inherited traits are known to be segregating can then be analyzed, making possible the mapping of the gene(s) responsible for the trait with respect to the DNA marker loci, without requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.

The Primary Immunodeficiencies

Abstract: The primary immunodeficiency disorders reflect abnormalities in the development and maturation of cells of the immune system. These defects result in an increased susceptibility to infection; recurrent pyogenic infections occur with defects of humoral immunity, and opportunistic infections with defects of cell-mediated immunity. These two broad categories of illness correspond roughly to defects in the two principal types of immunocompetent cells, B lymphocytes and T lymphocytes. Defective development of B cells results in abnormalities in humoral immunity, whereas defects in the development of T cells cause problems with cellular immunity. When pathogens are taken up by macrophages or dendritic cells, . . .

Blood Groups in Man.

Abstract: BIOCHEMISTRY IN ANAESTHESIA Modern Trends In Anaesthesia. II. Aspects of Hydrogen lon Regulation and Biochemistry in Anaesthesia. Edited by Prankis T. Evans, M.B., B.S., F.R.C.S., F.F.A. R.C.S., and T. Cecil Gray, M.D., FF.A. R.C.S., Hon.F.F.A. R.A.C.S. (Pp. 219+vii; illustrated. 60s.) London: Butterworths. 1962. In this stimulating book a group of experts have written on hydrogen-ion regulation and biochemistry in anaesthesia. This vast subject has been divided rather artificially and only certain aspects of biochemistry have been covered, and the divisions are more related to clinical practice than basic physiology and biochemistry. TIhe sections have been written by specialists in each field; the material they contain is beyond criticism, and there is valuable practical advice. Some chapters are well written, though others are not so easy to read. All are packed with information, and, what is equally valuable, they provide a source of further information for the inquiring mind, for the references and bibliographies are excellent. It is a pleasure to have complicated electrophysics presented in a readable way (\" Measurement of pH and Pco l\"); \"The Cholinesterases\" is an embracing account of difficult physiological and biochemical problems. Throughout the book there is a wealth of valuable material, indeed so much so that at times too much appears to have been attempted within the space available, as in \" Effects of Hypercapnia.\" These are minor criticisms of a good book, or perhaps it would be wiser to call it a collection of papers on chosen subjects, for there is understandably a lack of cohesion among the various chapters, and even some slight overlapping, which renders the whole less valuable than its several parts. No one can read these papers without interest and profit (and occasionally amusement) and they should fulfil the editor's hope that they will stimulate further interest in basic science. The book is well presented; the printing and paper are good, but the price will not encourage widespread use of the book among the younger members of our specialty. G. E. H. ENDEPBY.