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,

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.

Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld.

A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3 Giuseppe De Michele, Maurizio De Fusco, Francesca Cavalcanti,

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

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

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.

Mapping of Autosomal Dominant Osteopetrosis Type II (Albers-Schönberg Disease) to Chromosome 16p13.3 Olivier Bénichou, Erna Cleiren, Jeppe Gram, Jens.

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

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.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D

Genomewide Linkage Scan Identifies a Novel Susceptibility Locus for Restless Legs Syndrome on Chromosome 9p Shenghan Chen, William G. Ondo, Shaoqi Rao,

C. M. van Duijn, M. C. J. Dekker, V. Bonifati, R. J. Galjaard, J. J

L. M. Downey, T. J. Keen, E. Roberts, D. C. Mansfield, M. Bamashmus, C

A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21

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

The Novel Genetic Disorder Microhydranencephaly Maps to Chromosome 16p

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

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Genomewide Scan for Nonsyndromic Cleft Lip and Palate in Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q Uppala.

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

Ehlers-Danlos Syndrome with Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder with One Predisposition Gene at Chromosome.

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 Third Major Locus for Autosomal Dominant Hypercholesterolemia Maps to 1p34.1- p32 Mathilde Varret, Jean-Pierre Rabès, Bruno Saint-Jore, Ana Cenarro,

Identification of a Genetic Locus for Ichthyosis Vulgaris on Chromosome 10q22.3– q24.2 Ping Liu, Qingyu Yang, Xu Wang, Aiping Feng, Tao Yang, Rong Yang,

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

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

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

The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster Martin Vollmer, Martin.

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,

The Gene for Naegeli–Franceschetti–Jadassohn Syndrome Maps to 17q21

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.

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13 Alice Krebsová, Henning Hamm, Susanne.

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

A Locus for Brachydactyly Type A-1 Maps to Chromosome 2q35-q36

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

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 Katja Grohmann, Thomas.

Erratum The American Journal of Human Genetics

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

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.

John A. Martignetti, Karen E

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

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

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3 Sen Yang, Min Gao, Yong Cui, Kai-Lin Yan,

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,

Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23

Familial Nontoxic Multinodular Thyroid Goiter Locus Maps to Chromosome 14q but Does Not Account for Familial Nonmedullary Thyroid Cancer Graham R. Bignell,

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.

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2 Laura S. Schmidt,

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

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.

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.

Genetic Analysis of Families with Parkinson Disease that Carry the Ala53Thr Mutation in the Gene Encoding α-Synuclein Aglaia Athanassiadou, Gerassimos.

Presentation transcript:

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, G.A. Rouleau The American Journal of Human Genetics Volume 70, Issue 3, Pages 763-769 (March 2002) DOI: 10.1086/338933 Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 1 Informative section of family 71, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, unaffected individuals are indicated by unblackened symbols, and key recombinants (VI:4 and VI:13) are indicated by an asterisk (*). These recombinants determined the critical interval to be 10 cM, flanked by markers D12S1685 and GATA151H05. The American Journal of Human Genetics 2002 70, 763-769DOI: (10.1086/338933) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 2 Informative section of family 13, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, unaffected individuals are indicated by unblackened symbols, key recombinants (V:14 and VI:11) are indicated by an asterisk (*), and possibly affected individuals are indicated by a question mark (?). These recombinants determined the critical region to be 8 cM, flanked by markers D12S1725 and D12S397. The American Journal of Human Genetics 2002 70, 763-769DOI: (10.1086/338933) Copyright © 2002 The American Society of Human Genetics Terms and Conditions

Figure 3 Informative section of family 27, with the chromosome 12p13 haplotype. The disease haplotype for HSA is indicated by the blackened bar. Affected individuals are indicated by blackened symbols, and unaffected individuals are indicated by unblackened symbols. Individual III:4 shares the complete haplotype and is unaffected. The American Journal of Human Genetics 2002 70, 763-769DOI: (10.1086/338933) Copyright © 2002 The American Society of Human Genetics Terms and Conditions