Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1999 Jan;64(1):157–164. doi: 10.1086/302191

Quantitative-trait locus for specific language and reading deficits on chromosome 6p.

J Gayán 1, S D Smith 1, S S Cherny 1, L R Cardon 1, D W Fulker 1, A M Brower 1, R K Olson 1, B F Pennington 1, J C DeFries 1
PMCID: PMC1377713  PMID: 9915954

Abstract

Reading disability (RD), or dyslexia, is a complex cognitive disorder manifested by difficulties in learning to read, in otherwise normal individuals. Individuals with RD manifest deficits in several reading and language skills. Previous research has suggested the existence of a quantitative-trait locus (QTL) for RD on the short arm of chromosome 6. In the present study, RD subjects' performance in several measures of word recognition and component skills of orthographic coding, phonological decoding, and phoneme awareness were individually subjected to QTL analysis, with a new sample of 126 sib pairs, by means of a multipoint mapping method and eight informative DNA markers on chromosome 6 (D6S461, D6S276, D6S105, D6S306, D6S258, D6S439, D6S291, and D6S1019). The results indicate significant linkage across a distance of at least 5 cM for deficits in orthographic (LOD = 3.10) and phonological (LOD = 2.42) skills, confirming previous findings.

Full Text

The Full Text of this article is available as a PDF (235.1 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Burt M. J., Smit D. J., Pyper W. R., Powell L. W., Jazwinska E. C. A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region. Genomics. 1996 Apr 15;33(2):153–158. doi: 10.1006/geno.1996.0178. [DOI] [PubMed] [Google Scholar]
  2. Cardon L. R., Smith S. D., Fulker D. W., Kimberling W. J., Pennington B. F., DeFries J. C. Quantitative trait locus for reading disability on chromosome 6. Science. 1994 Oct 14;266(5183):276–279. doi: 10.1126/science.7939663. [DOI] [PubMed] [Google Scholar]
  3. Carey G., Williamson J. Linkage analysis of quantitative traits: increased power by using selected samples. Am J Hum Genet. 1991 Oct;49(4):786–796. [PMC free article] [PubMed] [Google Scholar]
  4. DeFries J. C., Fulker D. W. Multiple regression analysis of twin data. Behav Genet. 1985 Sep;15(5):467–473. doi: 10.1007/BF01066239. [DOI] [PubMed] [Google Scholar]
  5. Fisher S. E., Marlow A. J., Lamb J., Maestrini E., Williams D. F., Richardson A. J., Weeks D. E., Stein J. F., Monaco A. P. A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. Am J Hum Genet. 1999 Jan;64(1):146–156. doi: 10.1086/302190. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Fulker D. W., Cherny S. S. An improved multipoint sib-pair analysis of quantitative traits. Behav Genet. 1996 Sep;26(5):527–532. doi: 10.1007/BF02359758. [DOI] [PubMed] [Google Scholar]
  7. Fulker D. W., Cherny S. S., Cardon L. R. Multipoint interval mapping of quantitative trait loci, using sib pairs. Am J Hum Genet. 1995 May;56(5):1224–1233. [PMC free article] [PubMed] [Google Scholar]
  8. Gessler D. D., Xu S. Using the expectation or the distribution of the identity by descent for mapping quantitative trait loci under the random model. Am J Hum Genet. 1996 Dec;59(6):1382–1390. [PMC free article] [PubMed] [Google Scholar]
  9. Grigorenko E. L., Wood F. B., Meyer M. S., Hart L. A., Speed W. C., Shuster A., Pauls D. L. Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15. Am J Hum Genet. 1997 Jan;60(1):27–39. [PMC free article] [PubMed] [Google Scholar]
  10. Hall J. M., LeDuc C. A., Watson A. R., Roter A. H. An approach to high-throughput genotyping. Genome Res. 1996 Sep;6(9):781–790. doi: 10.1101/gr.6.9.781. [DOI] [PubMed] [Google Scholar]
  11. Haseman J. K., Elston R. C. The investigation of linkage between a quantitative trait and a marker locus. Behav Genet. 1972 Mar;2(1):3–19. doi: 10.1007/BF01066731. [DOI] [PubMed] [Google Scholar]
  12. Idury R. M., Cardon L. R. A simple method for automated allele binning in microsatellite markers. Genome Res. 1997 Nov;7(11):1104–1109. doi: 10.1101/gr.7.11.1104. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Kruglyak L., Lander E. S. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet. 1995 Aug;57(2):439–454. [PMC free article] [PubMed] [Google Scholar]
  14. Malfroy L., Roth M. P., Carrington M., Borot N., Volz A., Ziegler A., Coppin H. Heterogeneity in rates of recombination in the 6-Mb region telomeric to the human major histocompatibility complex. Genomics. 1997 Jul 15;43(2):226–231. doi: 10.1006/geno.1997.4800. [DOI] [PubMed] [Google Scholar]
  15. Olson R., Wise B., Conners F., Rack J., Fulker D. Specific deficits in component reading and language skills: genetic and environmental influences. J Learn Disabil. 1989 Jun-Jul;22(6):339–348. doi: 10.1177/002221948902200604. [DOI] [PubMed] [Google Scholar]
  16. Pennington B. F. Using genetics to dissect cognition. Am J Hum Genet. 1997 Jan;60(1):13–16. [PMC free article] [PubMed] [Google Scholar]
  17. Rabin M., Wen X. L., Hepburn M., Lubs H. A., Feldman E., Duara R. Suggestive linkage of developmental dyslexia to chromosome 1p34-p36. Lancet. 1993 Jul 17;342(8864):178–178. doi: 10.1016/0140-6736(93)91384-x. [DOI] [PubMed] [Google Scholar]
  18. Risch N., Zhang H. Extreme discordant sib pairs for mapping quantitative trait loci in humans. Science. 1995 Jun 16;268(5217):1584–1589. doi: 10.1126/science.7777857. [DOI] [PubMed] [Google Scholar]
  19. Share D. L. Phonological recoding and self-teaching: sine qua non of reading acquisition. Cognition. 1995 May;55(2):151–226. doi: 10.1016/0010-0277(94)00645-2. [DOI] [PubMed] [Google Scholar]
  20. Smith S. D., Kimberling W. J., Pennington B. F., Lubs H. A. Specific reading disability: identification of an inherited form through linkage analysis. Science. 1983 Mar 18;219(4590):1345–1347. doi: 10.1126/science.6828864. [DOI] [PubMed] [Google Scholar]
  21. Stanovich K. E. Explaining the differences between the dyslexic and the garden-variety poor reader: the phonological-core variable-difference model. J Learn Disabil. 1988 Dec;21(10):590–604. doi: 10.1177/002221948802101003. [DOI] [PubMed] [Google Scholar]
  22. Wijsman E. M., Amos C. I. Genetic analysis of simulated oligogenic traits in nuclear and extended pedigrees: summary of GAW10 contributions. Genet Epidemiol. 1997;14(6):719–735. doi: 10.1002/(SICI)1098-2272(1997)14:6<719::AID-GEPI28>3.0.CO;2-S. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES