Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (144)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by G.Puffenberger, E.
Right arrow Articles by Chakravarti, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by G.Puffenberger, E.
Right arrow Articles by Chakravarti, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

RESEARCH-ARTICLE

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

Erik G.Puffenberger1, Erick R.Kauffman1, Stacey Bolk1,3, Tara C.Matise1, Sarah S.Washington1,3, Misha Angrist1, Jean Weissenbach4, Kenneth L.Garver1, Maria Mascari5, Roger Ladda5, Susan A.SIaugenhaupt6 and Aravinda Chakravarti1,2,3,*

1Department of Human Genetics 2Department of Psychiatry, University of Pittsburgh Pittsburgh, PA 15261 3Department of Genetics and Center for Human Genetics, Case Western Reserve University Cleveland, OH 44106, USA 4Genethon, 1 rue de I'internationate BP60-91000 Evry, France 5Division of Genetics, Pennsylvania State University Medical School Hershey, PA 17033 6Motecular Neurogenetics Laboratory, Massachusetts General Hospital Charlestown, MA 02129, USA

* To whom correspondence should be addressed at: Department of Genetics, BRB 721, Case Western Reserve University, 2109 Adelbert Road, Cleveland, OH 441064955, USA

Received April 21, 1994; Accepted June 16, 1994

Hirschsprung disease (HSCR) is a congenital disorder of unknown etiology characterized by the absence of enteric ganglia In the distal colon. We have ascertained a large, inbred, Mennonite kindred which demonstrates a high Incidence of Hirschsprung disease (HSCR). Genealogical analysis of all kinship relationships identified a single common ancestral couple for all parents of affected offspring. Segregation analysis yielded a segregation ratio of 10.67% for males and 5.45% for females. We searched for locations of the gene(s) responsible for HSCR in this pedigree by genotyplng three small multlcase families and locating genomlc regions demonstrating identity-by-descent followed by linkage disequilibrium analysis of 28 additional nuclear families. Based on this novel strategy, we report the mapping of a new locus for HSCR to chromosome 13q22. Nine microsatelllte markers spanning 10 cM in this region were genotyped on thirty-one nuclear families. Significant nonrandom association was detected with alleles at markers D13S162, D13S160, D13S170, and AFM240zg9. In addition, our studies reveal preliminary evidence for a genetic modifier of HSCR in this kindred on chromosome 21q22.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Am. Soc. Nephrol.Home page
P. L. Weng, S. Sanna-Cherchi, T. Hensle, E. Shapiro, A. Werzberger, G. Caridi, C. Izzi, A. Konka, A. C. Reese, R. Cheng, et al.
A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13
J. Am. Soc. Nephrol., July 1, 2009; 20(7): 1633 - 1640.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M.-M. Garcia-Barcelo, C. S.-m. Tang, E. S.-w. Ngan, V. C.-h. Lui, Y. Chen, M.-t. So, T. Y.-y. Leon, X.-p. Miao, C. K.-y. Shum, F.-q. Liu, et al.
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
PNAS, February 24, 2009; 106(8): 2694 - 2699.
[Abstract] [Full Text] [PDF]

Home page
 DMMHome page
K. Dutton, L. Abbas, J. Spencer, C. Brannon, C. Mowbray, M. Nikaido, R. N. Kelsh, and T. T. Whitfield
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle
Dis. Model. Mech., January 1, 2009; 2(1-2): 68 - 83.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, et al.
Hirschsprung disease, associated syndromes and genetics: a review
J. Med. Genet., January 1, 2008; 45(1): 1 - 14.
[Abstract] [Full Text] [PDF]

Home page
 FocusHome page
E. S. Lander and N. J. Schork
Genetic Dissection of Complex Traits
Focus, August 1, 2006; 4(3): 442.
[Abstract] [Full Text] [PDF]

Home page
 DNA ResHome page
M. Rachidi, C. Lopes, M. Costantine, and J.-M. Delabar
C21orf5, a New Member of Dopey Family Involved in Morphogenesis, Could Participate in Neurological Alterations and Mental Retardation in Down Syndrome
DNA Res, January 1, 2005; 12(3): 203 - 210.
[Abstract] [Full Text] [PDF]

Home page
 GeneticsHome page
T. Ito, E. Inoue, and N. Kamatani
Association Test Algorithm Between a Qualitative Phenotype and a Haplotype or Haplotype Set Using Simultaneous Estimation of Haplotype Frequencies, Diplotype Configurations and Diplotype-Based Penetrances
Genetics, December 1, 2004; 168(4): 2339 - 2348.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. Garcia-Barcelo, M.-H. Sham, W.-S. Lee, V. C.-H. Lui, B. L.-S. Chen, K. K.-Y. Wong, J. S.-W. Wong, and P. K.-H. Tam
Highly Recurrent RET Mutations and Novel Mutations in Genes of the Receptor Tyrosine Kinase and Endothelin Receptor B Pathways in Chinese Patients with Sporadic Hirschsprung Disease
Clin. Chem., January 1, 2004; 50(1): 93 - 100.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M-M Garcia-Barcelo, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, and P K-H Tam
Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype
J. Med. Genet., November 1, 2003; 40(11): e122 - 122.
[Full Text] [PDF]

Home page
 GutHome page
M Garcia-Barcelo, M H Sham, V C H Lui, B L S Chen, J Ott, and P K H Tam
Association study of PHOX2B as a candidate gene for Hirschsprung's disease
Gut, April 1, 2003; 52(4): 563 - 567.
[Abstract] [Full Text] [PDF]

Home page
 Cold Spring Harb Symp Quant BiolHome page
A.S. MCCALLION, E.S. EMISON, C.S. KASHUK, R.T. BUSH, M. KENTON, M.M. CARRASQUILLO, K.W. JONES, G.C. KENNEDY, M.E. PORTNOY, E.D. GREEN, et al.
Genomic Variation in Multigenic Traits: Hirschsprung Disease
Cold Spring Harb Symp Quant Biol, January 1, 2003; 68(0): 373 - 382.
[Abstract] [PDF]

Home page
 J. Med. Genet.Home page
J. Amiel and S. Lyonnet
Hirschsprung disease, associated syndromes, and genetics: a review
J. Med. Genet., November 1, 2001; 38(11): 729 - 739.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L.B. Jorde, W.S. Watkins, and M.J. Bamshad
Population genomics: a bridge from evolutionary history to genetic medicine
Hum. Mol. Genet., October 1, 2001; 10(20): 2199 - 2207.
[Abstract] [Full Text] [PDF]

Home page
 Stat Methods Med ResHome page
L. C Lazzeroni
A chronology of fine-scale gene mapping by linkage disequilibrium
Statistical Methods in Medical Research, February 1, 2001; 10(1): 57 - 76.
[Abstract] [PDF]

Home page
 Genome ResHome page
E. A. Ostrander and L. Kruglyak
Unleashing the Canine Genome
Genome Res., September 1, 2000; 10(9): 1271 - 1274.
[Full Text]

Home page
 J. Med. Genet.Home page
S. Borrego, A. Ruiz, M. E. Saez, O. Gimm, X. Gao, M. López-Alonso, A. Hernández, F. A Wright, G. Antiñolo, and C. Eng
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
J. Med. Genet., August 1, 2000; 37(8): 572 - 578.
[Abstract] [Full Text]

Home page
 J. Med. Genet.Home page
M. BAHUAU, I. LAURENDEAU, A. PELET, B. ASSOULINE, T. LAMIREAU, L. TAINE, B. LE BAIL, P. VERGNES, S. GALLET, M. VIDAUD, et al.
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
J. Med. Genet., February 1, 2000; 37(2): 146 - 150.
[Full Text]

Home page
 J. Med. Genet.Home page
S. Borrego, M. E. Sáez, A. Ruiz, O. Gimm, M. López-Alonso, G. Antiñolo, and C. Eng
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
J. Med. Genet., October 1, 1999; 36(10): 771 - 774.
[Abstract] [Full Text]

Home page
 Proc. Natl. Acad. Sci. USAHome page
J. Riquet, W. Coppieters, N. Cambisano, J.-J. Arranz, P. Berzi, S. K. Davis, B. Grisart, F. Farnir, L. Karim, M. Mni, et al.
Fine-mapping of quantitative trait loci by identity by descent in outbred populations: Application to milk production in dairy cattle
PNAS, August 3, 1999; 96(16): 9252 - 9257.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
S. H. Shaw, M. M. Carrasquillo, C. Kashuk, E. G. Puffenberger, and A. Chakravarti
Allele Frequency Distributions in Pooled DNA Samples: Applications to Mapping Complex Disease Genes
Genome Res., February 1, 1998; 8(2): 111 - 123.
[Abstract] [Full Text]

Home page
 Br J OphthalmolHome page
S. M CARDEN, R. E BOISSY, P. J SCHOETTKER, and W. V GOOD
Albinism: modern molecular diagnosis
Br J Ophthalmol, February 1, 1998; 82(2): 189 - 195.
[Full Text]

Home page
 Proc. Natl. Acad. Sci. USAHome page
L. A. McInnes, M. A. Escamilla, S. K. Service, V. I. Reus, P. Leon, S. Silva, E. Rojas, M. Spesny, S. Baharloo, K. Blankenship, et al.
A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees
PNAS, November 12, 1996; 93(23): 13060 - 13065.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
C Charlier, F Farnir, P Berzi, P Vanmanshoven, B Brouwers, H Vromans, and M Georges
Identity-by-descent mapping of recessive traits in livestock: application to map the bovine syndactyly locus to chromosome 15.
Genome Res., July 1, 1996; 6(7): 580 - 589.
[Abstract] [PDF]

Home page
 ScienceHome page
E. Lander and N. Schork
Genetic dissection of complex traits
Science, September 30, 1994; 265(5181): 2037 - 2048.
[Abstract] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.