Huntington's disease: Two families with differing clinical features show linkage to the G8 probe

Susan E. Folstein; John A. Phillips; Deborah A. Meyers; Gary A. Chase; Margaret H. Abbott; Mary L. Franz; Pamela G. Waber; Haig H. Kazazian; P. Michael Conneally; Wendy Hobbs; Rudolph Tanzi; Ann Faryniarz; Kerrin Gibbons; James Gusella

doi:10.1126/science.2992086

Huntington's disease: Two families with differing clinical features show linkage to the G8 probe

Susan E. Folstein, John A. Phillips, Deborah A. Meyers, Gary A. Chase, Margaret H. Abbott, Mary L. Franz, Pamela G. Waber, Haig H. Kazazian, P. Michael Conneally, Wendy Hobbs, Rudolph Tanzi, Ann Faryniarz, Kerrin Gibbons, James Gusella

Research output: Contribution to journal › Review article › peer-review

57 Scopus citations

Abstract

To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.

Original language	English (US)
Pages (from-to)	776-779
Number of pages	4
Journal	Science
Volume	229
Issue number	4715
DOIs	https://doi.org/10.1126/science.2992086
State	Published - 1985
Externally published	Yes

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Folstein, S. E., Phillips, J. A., Meyers, D. A., Chase, G. A., Abbott, M. H., Franz, M. L., Waber, P. G., Kazazian, H. H., Conneally, P. M., Hobbs, W., Tanzi, R., Faryniarz, A., Gibbons, K., & Gusella, J. (1985). Huntington's disease: Two families with differing clinical features show linkage to the G8 probe. Science, 229(4715), 776-779. https://doi.org/10.1126/science.2992086

@article{23dbf6af9af1402eaa176a9c9e3fbaa6,

title = "Huntington's disease: Two families with differing clinical features show linkage to the G8 probe",

abstract = "To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.",

author = "Folstein, {Susan E.} and Phillips, {John A.} and Meyers, {Deborah A.} and Chase, {Gary A.} and Abbott, {Margaret H.} and Franz, {Mary L.} and Waber, {Pamela G.} and Kazazian, {Haig H.} and Conneally, {P. Michael} and Wendy Hobbs and Rudolph Tanzi and Ann Faryniarz and Kerrin Gibbons and James Gusella",

year = "1985",

doi = "10.1126/science.2992086",

language = "English (US)",

volume = "229",

pages = "776--779",

journal = "Science",

issn = "0036-8075",

publisher = "American Association for the Advancement of Science",

number = "4715",

}

TY - JOUR

T1 - Huntington's disease

T2 - Two families with differing clinical features show linkage to the G8 probe

AU - Folstein, Susan E.

AU - Phillips, John A.

AU - Meyers, Deborah A.

AU - Chase, Gary A.

AU - Abbott, Margaret H.

AU - Franz, Mary L.

AU - Waber, Pamela G.

AU - Kazazian, Haig H.

AU - Conneally, P. Michael

AU - Hobbs, Wendy

AU - Tanzi, Rudolph

AU - Faryniarz, Ann

AU - Gibbons, Kerrin

AU - Gusella, James

PY - 1985

Y1 - 1985

N2 - To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.

AB - To test the hypothesis that interfamily variability in Huntington's Disease (HD) is due to mutation at different loci, linkage analysis was undertaken in two large HD kindreds that differed in ethnicity, age-at-onset, and neurologic and psychiatric features. Both families showed linkage of the HD locus to the G8 probe. Several recombinants were documented in each family, and the best estimate of the recombination fraction for the two families was 6 percent with a 95 percent confidence interval of 0 to 12 percent. Although the data support the existence of a single HD locus, use of the G8 probe for presymptomatic testing in these kindreds would have resulted in a 12 percent error rate in genotype assignment at the HD locus.

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VL - 229

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JO - Science

JF - Science

IS - 4715

ER -

Huntington's disease: Two families with differing clinical features show linkage to the G8 probe

Abstract

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