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

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

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 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.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa Alan J. Mears, Linn Gieser, Denise.

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

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

Genetic Linkage of the Muckle-Wells Syndrome to Chromosome 1q44

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

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

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

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

Meta-analysis of Genetic-Linkage Analysis of Quantitative-Trait Loci

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

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.

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

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

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

Mendelian Inheritance in Man and Its Online Version, OMIM

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,

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,

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,

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,

Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of.

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,

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31 Binoy Appukuttan, Elizabeth Gillanders, Suh-Hang Juo, Diana Freas-Lutz, Sandra.

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.

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.

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Edwin Reyniers, Patrick Van Bogaert,

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.

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

Genetic Analysis of Meiotic Recombination in Humans by Use of Sperm Typing: Reduced Recombination within a Heterozygous Paracentric Inversion of Chromosome.

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 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.

Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic.

Psoriasis Genetics: The Way Forward

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

Simone Sanna-Cherchi, Gianluca Caridi, Patricia L

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,

Alice S. Whittemore, Jerry Halpern

A Chromosomal Deletion Map of Human Malformations

Minimum-Recombinant Haplotyping in Pedigrees

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,

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:

Refinement of the Locus for Autosomal Recessive Retinitis Pigmentosa (RP25) Linked to Chromosome 6q in a Family of Pakistani Origin Shagufta Khaliq, Abdul Hameed, Muhammed Ismail, S. Qasim Mehdi, David A.R. Bessant, Annette M. Payne, Shomi S. Bhattacharya The American Journal of Human Genetics Volume 65, Issue 2, Pages 571-574 (August 1999) DOI: 10.1086/302493 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 1 Family pedigree and haplotypes in the disease region of 6q. For each individual, the disease haplotype is shown as a blackened bar. The American Journal of Human Genetics 1999 65, 571-574DOI: (10.1086/302493) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

Figure 2 Boundaries of the chromosomal interval containing the 6q arRP gene, in relation to the critical intervals for other eye disorders mapping to this region. Our results indicate either that GABA-receptor candidate genes are no longer candidates for this phenotype or that there are in fact two arRP loci in close proximity on 6q. The American Journal of Human Genetics 1999 65, 571-574DOI: (10.1086/302493) Copyright © 1999 The American Society of Human Genetics Terms and Conditions