Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic.

Slides:



Advertisements
Similar presentations
A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25 D.P. McHale, S. Mitchell, S. Bundey, L. Moynihan, D.A. Campbell,
Advertisements

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
A Spectrum of FOXC1 Mutations Suggests Gene Dosage as a Mechanism for Developmental Defects of the Anterior Chamber of the Eye Darryl Y. Nishimura, Charles.
The Trimmed-Haplotype Test for Linkage Disequilibrium
A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism  Laura Almasy, James E. Hixson,
A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families  Jian-Jun Chen, Wei Huang, Jin-Ping.
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Daniel J. Schaid, Charles M. Rowland, David E. Tines, Robert M
A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.
Localization of a Gene (MCUL1) for Multiple Cutaneous Leiomyomata and Uterine Fibroids to Chromosome 1q42.3-q43  N.A. Alam, S. Bevan, M. Churchman, E.
Frances Busfield, David L. Duffy, Janine B. Kesting, Shelley M
A Major Susceptibility Locus Influencing Plasma Triglyceride Concentrations Is Located on Chromosome 15q in Mexican Americans  Ravindranath Duggirala,
Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs  Jian Huang, Yanming Jiang  The.
Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder
The Origin of Abnormalities in Recurrent Aneuploidy/Polyploidy
Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 
Malic Enzyme 2 May Underlie Susceptibility to Adolescent-Onset Idiopathic Generalized Epilepsy  David A. Greenberg, Eftihia Cayanis, Lisa Strug, Sudhir.
A Combined Linkage-Physical Map of the Human Genome
A. Vanita, Jai Rup Singh, Virinder K
Genetics, Individuality, and Medicine in the 21st Century*
The American Journal of Human Genetics 
Elizabeth Theusch, Analabha Basu, Jane Gitschier 
Reduction of Sample Heterogeneity through Use of Population Substructure: An Example from a Population of African American Families with Sarcoidosis 
Lan Xiong, Malgorzata Labuda, Dong-Sheng Li, Thomas J
Evidence for a Nonallelic Heterogeneity of Epidermodysplasia Verruciformis with Two Susceptibility Loci Mapped to Chromosome Regions 2p21–p24 and 17q25 
GeneTests: Integrating Genetic Services into Patient Care*
A Second Gene for Autosomal Dominant Möbius Syndrome Is Localized to Chromosome 10q, in a Dutch Family  H.T.F.M. Verzijl, B. van den Helm, B. Veldman,
Lue Ping Zhao, Ross Prentice, Fumin Shen, Li Hsu 
Chuanhui Dong, Wei-Dong Li, Frank Geller, Lei Lei, Ding Li, Olga Y
Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity  Blanka Stibůrková,
Figure 2 Linkage analysis of chromosome 19
A Genomewide Search Finds Major Susceptibility Loci for Nicotine Dependence on Chromosome 10 in African Americans  Ming D. Li, Thomas J. Payne, Jennie.
Localization of a Gene for Benign Adult Familial Myoclonic Epilepsy to Chromosome 8q23.3-q24.1  Masaaki Mikami, Takeshi Yasuda, Akira Terao, Masayuki.
Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A
Stephen C. Pratt, Mark J. Daly, Leonid Kruglyak 
A Whole-Genome Scan and Fine-Mapping Linkage Study of Auditory-Visual Synesthesia Reveals Evidence of Linkage to Chromosomes 2q24, 5q33, 6p12, and 12p12 
A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24  S.J. Mitchell, D.P. McHale, D.A. Campbell,
E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman 
Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31  Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.
The SNP Endgame: A Multidisciplinary Approach*
Family-Based Tests of Association in the Presence of Linkage
Erratum The American Journal of Human Genetics
A Genomewide Linkage Scan for Quantitative-Trait Loci for Obesity Phenotypes  Hong-Wen Deng, Hongyi Deng, Yong-Jun Liu, Yao-Zhong Liu, Fu-Hua Xu, Hui Shen,
Genetic Linkage of Hereditary Gingival Fibromatosis to Chromosome 2p21
Michael P. Epstein, Xihong Lin, Michael Boehnke 
On a Randomization Procedure in Linkage Analysis
Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.
Ari Karason, Johann E. Gudjonsson, Ruchi Upmanyu, Arna A
Genomewide Linkage Analysis of Quantitative Spirometric Phenotypes in Severe Early- Onset Chronic Obstructive Pulmonary Disease  Edwin K. Silverman, Lyle.
Volume 69, Issue 3, Pages (February 2006)
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
A Gene Locus Responsible for the Familial Hair Shaft Abnormality Pili Annulati Maps to Chromosome 12q24.32–24.33  Kathrin A. Giehl, Gertrud N. Eckstein,
Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications 
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
Genome Screen to Identify Susceptibility Genes for Parkinson Disease in a Sample without parkin Mutations  Nathan Pankratz, William C. Nichols, Sean K.
Linkage Analyses at the Chromosome 1 Loci 1q24-25 (HPC1), 1q42
Detection and Integration of Genotyping Errors in Statistical Genetics
Alice S. Whittemore, Jerry Halpern 
Kathleen A. Daly, W. Mark Brown, Fernando Segade, Donald W
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Genetic Linkage Analysis of a Dichotomous Trait Incorporating a Tightly Linked Quantitative Trait in Affected Sib Pairs  Jian Huang, Yanming Jiang  The.
A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families  Jian-Jun Chen, Wei Huang, Jin-Ping.
Sanjay Shete, Xiaojun Zhou, Christopher I. Amos 
Mapping of a New SGBS Locus to Chromosome Xp22 in a Family with a Severe Form of Simpson-Golabi-Behmel Syndrome  L.M. Brzustowicz, S. Farrell, M.B. Khan,
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34  Andrea H. Németh, Elena.
Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity  Rémi Dufourcq-Lagelouse, Nada Jabado, Françoise Le.
Presentation transcript:

Reproducibility and Complications in Gene Searches: Linkage on Chromosome 6, Heterogeneity, Association, and Maternal Inheritance in Juvenile Myoclonic Epilepsy  David A. Greenberg, Martina Durner, Mehdi Keddache, Shlomo Shinnar, Stanley R. Resor, Solomon L. Moshe, David Rosenbaum, Jeffrey Cohen, Cynthia Harden, Harriet Kang, Sibylle Wallace, Daniel Luciano, Karen Ballaban-Gil, Livia Tomasini, Guilian Zhou, Irene Klotz, Elisa Dicker  The American Journal of Human Genetics  Volume 66, Issue 2, Pages 508-516 (February 2000) DOI: 10.1086/302763 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Multipoint LOD scores for JME on chromosome 6, showing curves both with and without the assumption of heterogeneity. The American Journal of Human Genetics 2000 66, 508-516DOI: (10.1086/302763) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Pedigree of a family with epilepsy, showing a recombinant (box) between DQ and DP, suggesting that EJM1 lies distal to DP. The American Journal of Human Genetics 2000 66, 508-516DOI: (10.1086/302763) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Multipoint linkage analysis for families in which the index patient was CA.RING3.3+ or CA.RING3.3− The American Journal of Human Genetics 2000 66, 508-516DOI: (10.1086/302763) Copyright © 2000 The American Society of Human Genetics Terms and Conditions