The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p

Slides:



Advertisements
Similar presentations
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3 Alejandro Leal, Bernal Morera, Gerardo.
Advertisements

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3  Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,
Identification of a Novel Locus Associated with Congenital Recessive Ichthyosis on 12p11.2–q13  Mordechai Mizrachi-Koren, Dan Geiger, Margarita Indelman,
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study 
Transmission/Disequilibrium Tests for Extended Marker Haplotypes
A Novel Primary Immunodeficiency with Specific Natural-Killer Cell Deficiency Maps to the Centromeric Region of Chromosome 8  Céline Eidenschenk, Jean.
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3  Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.
A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33  Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne.
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
Fine Localization of the Nijmegen Breakage Syndrome Gene to 8q21: Evidence for a Common Founder Haplotype  Karen M. Cerosaletti, Ethan Lange, Heather.
Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis- Susceptibility Locus on Chromosome 19p13  Young-Ae Lee, Franz Rüschendorf, Christine.
Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15  Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun.
Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p  Shenghan Chen, William G. Ondo, Shaoqi Rao,
An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.
Quantitative-Trait Loci Influencing Body-Mass Index Reside on Chromosomes 7 and 13: The National Heart, Lung, and Blood Institute Family Heart Study 
A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q  S.C.
Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 
A Combined Linkage-Physical Map of the Human Genome
A. Vanita, Jai Rup Singh, Virinder K
The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p  
Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations  C. Bourgain, E. Génin, P. Holopainen, K.
The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10p  Lanying Li, Dennis Drayna,
The American Journal of Human Genetics 
A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution  Edgar Otto, Julia Hoefele,
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 
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,
Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis  P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck.
Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman 
John D. Rioux, Valerie A. Stone, Mark J
The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster  Martin Vollmer, Martin.
The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21
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
Genetic studies into inherited and sporadic hemolytic uremic syndrome
Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13  Federico Zara, Elena Gennaro, Mariano.
Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies  Valerie A. Street, Jeff D. Goldy,
E. Warwick Daw, Simon C. Heath, Ellen M. Wijsman 
Erratum The American Journal of Human Genetics
Genetic Linkage of Autosomal-Dominant Alport Syndrome with Leukocyte Inclusions and Macrothrombocytopenia (Fechtner Syndrome) to Chromosome 22q11-13 
Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity  Judith Fischer, Alexandra.
Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.
A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map  Carolyn Schanen, Uta.
Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain  Karl W. Broman, James L. Weber  The American.
Evidence That the Penetrance of Mutations at the RP11 Locus Causing Dominant Retinitis Pigmentosa Is Influenced by a Gene Linked to the Homologous RP11.
Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore 
Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36  Maria J. Schuermann, Edgar Otto, Achim Becker, Katrin.
Johan P. de Winter, France Léveillé, Carola G. M. van Berkel, Martin A
Linkage Analysis in a Large Brazilian Family with van der Woude Syndrome Suggests the Existence of a Susceptibility Locus for Cleft Palate at 17p  
A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22  Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,
Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications 
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23
A Second Recombination Hotspot Associated with SHOX Deletions
A New Locus for Autosomal Recessive Hypercholesterolemia Maps to Human Chromosome 15q25-q26  Milco Ciccarese, Adolfo Pacifico, Giancarlo Tonolo, Paolo.
Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23  Young-Ae Lee, Howard P.
Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites  Sally John, Neil Shephard, Guoying.
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
A New Familial Amyotrophic Lateral Sclerosis Locus on Chromosome 16q12
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 Places the Acrodermatitis Enteropathica Gene on Chromosomal Region 8q24.3  Kun Wang, Elizabeth W. Pugh, Shari Griffen, Kimberly F.
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity  Kathrin Saar, Lihadh.
A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13  I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,
B. Yuan, R. Neuman, S. H. Duan, J. L. Weber, P. Y. Kwok, N. L
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.
The Size Distribution of Homozygous Segments in the Human Genome
Presentation transcript:

The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p Quinten Waisfisz, Cigdem Altay, Peter A. Leegwater, Johan P. de Winter, Kenshi Komatsu, Gareth R. Evans, Rolf-Dieter Wegner, André Reis, Hans Joenje, Fré Arwert, Christopher G. Mathew, Jan C. Pronk, Kathrin Saar, Neil V. Morgan, Martin Digweed  The American Journal of Human Genetics  Volume 64, Issue 5, Pages 1400-1405 (May 1999) DOI: 10.1086/302385 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Homozygosity mapping of microsatellite markers spaced at 11-cM intervals in FA family 1. Each box represents a microsatellite marker located on the 22 autosomes; 274 markers were analyzed. Solid boxes indicate markers that were informative and homozygous in the affected child EUFA130 only; hatched boxes indicate markers that were homozygous in EUFA130 but not fully informative; open boxes indicate markers that were heterozygous in EUFA130; and missing boxes indicate further markers of the MDC-Généthon panel that were not analyzed. The American Journal of Human Genetics 1999 64, 1400-1405DOI: (10.1086/302385) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Most likely haplotypes for microsatellite markers on chromosome 6p. Family 1, with complementation group E reference patient EUFA130, is consanguineous; the parents are first cousins. Family 2 was assigned in this report to complementation group E. Family 3 is consanguineous and was assigned in this report to complementation group E; the parents are second cousins. Symbols for affected individuals are solid. The American Journal of Human Genetics 1999 64, 1400-1405DOI: (10.1086/302385) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 3 Multipoint analysis of chromosome 6 markers in FA-E families. The American Journal of Human Genetics 1999 64, 1400-1405DOI: (10.1086/302385) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 4 Map of microsatellite markers on chromosome 6p and the FANCE gene. Genetic distances are indicated in centimorgans (cM). Physical locations of makers are taken from the consensus map of chromosome 6p (Genome Data Base). The American Journal of Human Genetics 1999 64, 1400-1405DOI: (10.1086/302385) Copyright © 1999 The American Society of Human Genetics Terms and Conditions