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E. B. Robson

Bio: E. B. Robson is an academic researcher from University College London. The author has contributed to research in topics: Locus (genetics) & Alkaline phosphatase. The author has an hindex of 14, co-authored 24 publications receiving 1029 citations.

Papers
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Journal ArticleDOI
TL;DR: Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin.
Abstract: SUMMARY 32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4·7 at θ= 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2·63) and with D16S291 on chromosome 16 (max lod 3·98) at values of theta of 0·2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.

255 citations

Journal ArticleDOI
01 Oct 1966-Nature
TL;DR: The influence of diet on the “Intestinal” component of Serum Alkaline Phosphates in People of Different ABO Blood Groups and Secretor Status is studied.
Abstract: Influence of Diet on the “Intestinal” Component of Serum Alkaline Phosphates in People of Different ABO Blood Groups and Secretor Status

162 citations

Journal ArticleDOI
13 Sep 1969-Nature
TL;DR: Computer analysis of sixteen pedigrees that bear on the linkage of Hp to the D chromosomal lesion gives lod scores: which do not confirm the assignment, and apparently adverse lod scores could be obtained even if the assignment were correct if Hp were remote from the site of the lesion in at least some of the pedigree.
Abstract: THERE has been discussion concerning the possible assignment of the human haptoglobin locus, Hpα, to a D group chromosome1–3. The data showed anomalies of haptoglobin inheritance in various heterozygous deletions of a D chromosome and were open to alternative interpretations such as the presence of the rare, apparently inactive, allele Hp0. These data have been reviewed4. No support for the assignment was elicited by linkage studies involving a D/D or a D/G translocation or involving a chromosomal variant of a D group chromosome. Computer analysis of sixteen such pedigrees that bear on the linkage of Hp to the D chromosomal lesion gives lod scores: which do not confirm the assignment. (Lod score at recombination fraction θ = log10 (standardized likelihood of pedigree data given θ). A likelihood of 1 at θ = 0.5 (lod = 0) is taken as the base of standardization. A lod of 3, for example, corresponds to a likelihood 1,000 times greater than the likelihood at θ = 0.5.) Such apparently adverse lod scores could, however, be obtained even if the assignment were correct if Hp were remote from the site of the lesion in at least some of the pedigrees.

66 citations

Journal ArticleDOI
TL;DR: A survey of placental alkaline phosphatase phenotypes in 5000 placentae of Caucasian, Negro and Asiatic Indian origin is described, with particular reference to the incidence, genetics and biochemical characteristics of the uncommon phenotypes.
Abstract: Placental alkaline phosphatase is a tissue-specific enzyme which has been shown to be polymorphic (Boyer, 1961 ; Robson & Harris, 1965). In all populations so far described there are three alleles with frequencies greater than 0.01, Play Plf and PI', though the particular gene frequencies differ considerably between populations (see Lucarelli-Palmarino et al. 1970, for review). In addition there are about 2 yo of unusual phenotypes which appear to be due to heterozygosity for a rare allele and one or other of the three common alleles. In this paper we shall describe a survey of placental alkaline phosphatase phenotypes in 5000 placentae of Caucasian, Negro and Asiatic Indian origin, with particular reference to the incidence, genetics and biochemical characteristics of the uncommon phenotypes.

66 citations


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Book
20 Sep 2004
TL;DR: This book will not become a unity of the way for you to get amazing benefits at all, but, it will serve something that will let you get the best time and moment to spend for reading the book.
Abstract: It sounds good when knowing the pathology and genetics of tumours of the lung pleura thymus and heart in this website. This is one of the books that many people looking for. In the past, many people ask about this book as their favourite book to read and collect. And now, we present hat you need quickly. It seems to be so happy to offer you this famous book. It will not become a unity of the way for you to get amazing benefits at all. But, it will serve something that will let you get the best time and moment to spend for reading the book.

1,858 citations

Journal ArticleDOI
08 Aug 1997-Science
TL;DR: Thirty-two distinct mutations were identified in TSC1, 30 of which were truncating, and a single mutation was seen in six apparently unrelated patients, which suggests that hamartin acts as a tumor suppressor.
Abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped to chromosomes 9q34 (TSC1) and 16p13 (TSC2). TheTSC1 gene was identified from a 900-kilobase region containing at least 30 genes. The 8.6-kilobase TSC1transcript is widely expressed and encodes a protein of 130 kilodaltons (hamartin) that has homology to a putative yeast protein of unknown function. Thirty-two distinct mutations were identified inTSC1, 30 of which were truncating, and a single mutation (2105delAAAG) was seen in six apparently unrelated patients. In one of these six, a somatic mutation in the wild-type allele was found in a TSC-associated renal carcinoma, which suggests that hamartin acts as a tumor suppressor.

1,516 citations

Journal ArticleDOI
TL;DR: From the Department of Neurology (P.P.N., K.L.C.) and the Division of Medical Genetics (K.B.H.) — both in Philadelphia.
Abstract: From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical Center; and the Department of Medical Oncology, Fox Chase Cancer Center (E.P.H.) — both in Philadelphia. Address reprint requests to Dr. Crino at the Department of Neurology, 3 West Gates Bldg., 3400 Spruce St., University of Pennsylvania Medical Center, Philadelphia, PA 19104, or at peter.crino@ uphs.upenn.edu.

1,492 citations

Journal Article
TL;DR: In this age of modern era, the use of internet must be maximized, as one of the benefits is to get the on-line analysis of human genetic linkage book, as the world window, as many people suggest.
Abstract: In this age of modern era, the use of internet must be maximized. Yeah, internet will help us very much not only for important thing but also for daily activities. Many people now, from any level can use internet. The sources of internet connection can also be enjoyed in many places. As one of the benefits is to get the on-line analysis of human genetic linkage book, as the world window, as many people suggest.

1,000 citations