Summary A model for genetic diseases and associated markers is defined where two distinct susceptibility alleles are possible, each associated with a different marker allele. Marker genotype distributions in a disease population are then expressed in terms of haplotype frequencies and penetrance parameters. It is shown that, if the heterozygote with two different disease alleles has a higher penetrance than the two disease homogzygotes, the observed to ‘Hardy‐Weinberg‐expected’ ratio of associated marker genotypes (the α/ β ratio of Falk, Mendell & Rubinstein, 1983) will always be greater than or equal to one. When all disease penetrances are equal, the model becomes indistinguishable from a recessive one‐ s ‐allele model with α/ β = 1. Application of these observations to several data sets for insulin dependent diabetes mellitus suggests the possibility that different marker genotype distributions in different samples may be due to different penetrances of the disease genotypes in the samples. If a particular environment causes the heterozygote disease genotype (with two different disease alleles) to have the highest penetrance, the marker genotype distribution would be compatible with the 2‐ s ‐allele model. In other environments where the three disease genotypes have essentially equal penetrances, the marker distribution would be compatible with the 1‐ s ‐allele model.
We studied five families, each containing two siblings affected with torsion dystonia and having phenotypically normal parents, for linkage of dystonia to 18 marker systems, including HLA. Analysis assumed an autosomal recessive mode of inheritance. Linkage was not found. Two markers, HLA and MN, were excluded from tight linkage, and evidence against tight linkage to ABO, Rh, GC, and GLO was obtained.
Review Articles| July 01 2009 Report of the committee on the genetic constitution of chromosome 2 Subject Area: Genetics S. Povey; S. Povey Search for other works by this author on: This Site PubMed Google Scholar C.T. Falk C.T. Falk Search for other works by this author on: This Site PubMed Google Scholar Cytogenetics and Cell Genetics (1989) 51 (1-4): 91–105. https://doi.org/10.1159/000132782 Article history Published Online: July 01 2009 Content Tools Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation S. Povey, C.T. Falk; Report of the committee on the genetic constitution of chromosome 2. Cytogenetics and Cell Genetics 31 December 1989; 51 (1-4): 91–105. https://doi.org/10.1159/000132782 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsCytogenetic and Genome Research Search Advanced Search This content is only available via PDF. 1989Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Article PDF first page preview Close Modal You do not currently have access to this content.
Research Articles| May 06 2008 Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6 Subject Area: Genetics C.T. Falk; C.T. Falk Lindsley F. Kimball Research Institute of The New York Blood Center and College of Physicians and Surgeons of Columbia University, New York, N.Y. Search for other works by this author on: This Site PubMed Google Scholar N. Suciu-Foca; N. Suciu-Foca Lindsley F. Kimball Research Institute of The New York Blood Center and College of Physicians and Surgeons of Columbia University, New York, N.Y. Search for other works by this author on: This Site PubMed Google Scholar P. Rubinstein P. Rubinstein Lindsley F. Kimball Research Institute of The New York Blood Center and College of Physicians and Surgeons of Columbia University, New York, N.Y. Search for other works by this author on: This Site PubMed Google Scholar Cytogenetics and Cell Genetics (1978) 22 (1-6): 298–300. https://doi.org/10.1159/000130958 Article history Published Online: May 06 2008 Content Tools Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn Email Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation C.T. Falk, N. Suciu-Foca, P. Rubinstein; Possible localization of the gene(s) for juvenile diabetes mellitus (JDM) to the HLA region of chromosome 6. Cytogenetics and Cell Genetics 31 December 1978; 22 (1-6): 298–300. https://doi.org/10.1159/000130958 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentAll JournalsCytogenetic and Genome Research Search Advanced Search Article PDF first page preview Close Modal This content is only available via PDF. 1978Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. You do not currently have access to this content.
'%3e%3cpath fill='%23012169' d='M0 0v30h60V0z'/%3e%3cpath stroke='%23fff' stroke-width='6' d='m0 0 60 30m0-30L0 30'/%3e%3cpath stroke='%23C8102E' stroke-width='4' d='m0 0 60 30m0-30L0 30' clip-path='url(%23b)'/%3e%3cpath stroke='%23fff' stroke-width='10' d='M30 0v30M0 15h60'/%3e%3cpath stroke='%23C8102E' stroke-width='6' d='M30 0v30M0 15h60'/%3e%3c/g%3e%3c/svg%3e)
