M. A. Escamilla, M. C. DeMille, E. Benavides, E. Roche, L. Almasy, S

Slides:

Advertisements

Similar presentations

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.

Advertisements

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.

Peopling of Sahul: mtDNA Variation in Aboriginal Australian and Papua New Guinean Populations Alan J. Redd, Mark Stoneking The American Journal of Human.

The Trimmed-Haplotype Test for Linkage Disequilibrium

Human Pedigree-Based Quantitative-Trait–Locus Mapping: Localization of Two Genes Influencing HDL-Cholesterol Metabolism Laura Almasy, James E. Hixson,

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Transmission/Disequilibrium Tests for Extended Marker Haplotypes

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Mapping of X-Linked Myxomatous Valvular Dystrophy to Chromosome Xq28

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping Adel Shalata, Hanna Mandel, Jochen.

Robustness and Power of the Maximum-Likelihood–Binomial and Maximum-Likelihood– Score Methods, in Multipoint Linkage Analysis of Affected-Sibship Data

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.

Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype Karen M. Cerosaletti, Ethan Lange, Heather.

A Gene for Pyridoxine-Dependent Epilepsy Maps to Chromosome 5q31

A Combined Linkage-Physical Map of the Human Genome

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Tamara Rogers, David Chandler, Dora Angelicheva, P. K

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

Consanguinity in Saudi Arabia: A Unique Opportunity for Pediatric Kidney Research Jameela A. Kari, MD, FRCP, Detlef Bockenhauer, MD, PhD, Horia Stanescu,

Accuracy of Haplotype Frequency Estimation for Biallelic Loci, via the Expectation- Maximization Algorithm for Unphased Diploid Genotype Data Daniele.

Mapping of Primary Congenital Lymphedema to the 5q35.3 Region

The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p Lanying Li, Dennis Drayna,

Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11 Mauricio Arcos-Burgos, F. Xavier.

An Immune Defect Causing Dominant Chronic Mucocutaneous Candidiasis and Thyroid Disease Maps to Chromosome 2p in a Single Family T. Prescott Atkinson,

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,

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion Rýdvan S. Özen, Bora E. Baysal,

The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36 José Faibes Lubianca Neto, Leonard Lu, Roland.

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Tristan F. W. McMullan, Andrew R. Collins, Anthony G. Tyers, David O

Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic Heterogeneity Blanka Stibůrková,

A Gene for Familial Juvenile Polyposis Maps to Chromosome 18q21.1

Two Families with Familial Amyotrophic Lateral Sclerosis Are Linked to a Novel Locus on Chromosome 16q Deborah M. Ruddy, Matthew J. Parton, Ammar Al-Chalabi,

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin Shagufta Khaliq,

Christoph Lange, Nan M. Laird The American Journal of Human Genetics

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

A Novel Locus for Familial Amyotrophic Lateral Sclerosis, on Chromosome 18q Collette K. Hand, Jawad Khoris, François Salachas, François Gros-Louis, Ana.

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies Valerie A. Street, Jeff D. Goldy,

A Recurrent Expansion of a Maternal Allele with 36 CAG Repeats Causes Huntington Disease in Two Sisters Franco Laccone, Wilhelm Christian The American.

Claus Skaanning Jensen, Augustine Kong

Koji Suzuki, Tania Bustos, Richard A. Spritz

Erratum The American Journal of Human Genetics

Germ-Line Mosaicism in Tuberous Sclerosis: How Common?

Linkage Analysis Identifies a Novel Locus for Restless Legs Syndrome on Chromosome 2q in a South Tyrolean Population Isolate Irene Pichler, Fabio Marroni,

Linkage Analysis of X-linked Cone-Rod Dystrophy: Localization to Xp11

Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13

Benjamin A. Rybicki, Robert C. Elston

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

John A. Martignetti, Karen E

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

James A. Lautenberger, J. Claiborne Stephens, Stephen J

Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Suzanne M. Leal, Jurg Ott The American Journal of Human Genetics

Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26 Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.

Mapping of the Major Psoriasis-Susceptibility Locus (PSORS1) in a 70-Kb Interval around the Corneodesmosin Gene (CDSN) Sandro Orrù, Erika Giuressi, Carlo.

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree Heymut Omran, Carmen Fernandez,

A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13

Detection and Integration of Genotyping Errors in Statistical Genetics

Assignment of the Muscle-Eye-Brain Disease Gene to 1p32-p34 by Linkage Analysis and Homozygosity Mapping Bru Cormand, Kristiina Avela, Helena Pihko,

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity Kathrin Saar, Lihadh.

Minimum-Recombinant Haplotyping in Pedigrees

Gonçalo R. Abecasis, Janis E. Wigginton

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,

Presentation transcript:

A Minimalist Approach to Gene Mapping: Locating the Gene for Acheiropodia, by Homozygosity Analysis M.A. Escamilla, M.C. DeMille, E. Benavides, E. Roche, L. Almasy, S. Pittman, J. Hauser, D.F. Lew, N.B. Freimer, M.R. Whittle The American Journal of Human Genetics Volume 66, Issue 6, Pages 1995-2000 (June 2000) DOI: 10.1086/302921 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees 1–3. Presumed shared ancestral haplotypes surrounding the acheiropodia gene locus are outlined. Pedigree-specific haplotypes surrounding the acheiropodia gene are outlined by either unbroken lines (pedigree 1; haplotype A) or dotted lines (pedigrees 2 and 3; haplotype B). Alleles with unknown phase are denoted by a question mark (?) following the genotype. Genotypes and haplotypes for individual ap130 are reconstructed from those of the other pedigree members. In pedigree 1, three additional affected individuals (three deceased) and five unaffected individuals (one deceased) siblings of ap23 are not shown. One affected individual (from the sibship that includes ap14, ap15, and ap17–ap19) who was still born is not shown. The American Journal of Human Genetics 2000 66, 1995-2000DOI: (10.1086/302921) Copyright © 2000 The American Society of Human Genetics Terms and Conditions