The normal huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD

Journal Article · Thu Jul 01 00:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5957557

Farrer, L A ^[1]; Cupples, L A ^[2]; Conneally, P M ^[3]; Gusella, J F ^[4]; Myers, R H ^[5]

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1. Boston Univ., MA (United States) Harvard Medical School, Boston, MA (United States)
2. School of Public Health, Boston Univ., MA (United States)
3. Indiana Univ. School of Medicine, Indianapolis, IN (United States)
4. Harvard Medical School and Massachusetts General Hospital, Boston, MA (United States)
5. Harvard Medical School, Boston, MA (United States)

The authors evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent against age at onset in the affected offspring. Analysis of information from 21 sibships in 14 kindreds showed a significant tendency for sibs who have similar onset ages to share the same D4S10 allele from the normal parent. Affected sibs who inherited different D4S10 alleles from the normal parent tended to have more variable ages at onset. These findings suggest that the expression of HD is modulated by the normal HD allele or by a closely linked locus. 38 refs., 2 figs., 1 tab.

• OSTI ID: 5957557
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AGE DEPENDENCE
CHROMOSOMES
CONTROL
DISEASES
GENETIC CONTROL
HEREDITARY DISEASES
HUMAN CHROMOSOMES
NERVOUS SYSTEM
PEST CONTROL
TIME DEPENDENCE