Showing papers by "Jonathan L. Haines published in 1998"
TL;DR: The observations indicate that T SC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15–20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.
Abstract: We performed a comprehensive analysis for mutations in the TSC1 gene using Southern blot analysis, and SSCP and heteroduplex analysis of amplified exons in 13 families with genetic linkage to the TSC1 region, 22 small families without linkage information, and 126 sporadic patients. 17 unique mutations were identified in 21 patients. Mutations were found in 7/13 (54%) TSC1-linked families, 1/22 (5%) small families without linkage, and 13 of 126 (10%) sporadic cases. The mutations were all chain-terminating, with 14 small deletions, 1 small insertion, and 6 nonsense mutations. In families with mutations, all individuals carrying a mutation met formal diagnostic criteria for TSC, apart from a 3-year-old girl who had inherited a deletion mutation, and who had no seizures, normal intelligence, normal abdominal ultrasound, and hypomelanotic macules only on physical exam. We assessed the incidence and severity of mental retardation in the 13 sporadic patients with TSC1 mutations versus the entire sporadic cohort, and found no significant difference. The observations indicate that TSC1 mutations are all inactivating, suggest that TSC1 disease occurs in only 15-20% of the sporadic TSC population, and demonstrate that presymptomatic TSC does occur.
59 citations
TL;DR: It is concluded that this BH V/V genotype does not account for inherited susceptibility to AD in the populations represented in this sample and is unable to detect an association between BH and AD.
Abstract: A recent study showed modest evidence for an increased frequency of the bleomycin hydrolase (BH) V/V genotype in Alzheimer's disease (AD) patients compared with non-demented controls. To test this hypothesis, we examined this polymorphism in 621 rigorously evaluated patients and 502 control subjects (all caucasian) but were unable to detect an association between BH and AD even after controlling for age, gender, and apolipoprotein E (ApoE) genotype. We conclude that this polymorphism does not account for inherited susceptibility to AD in the populations represented in this sample.
40 citations
TL;DR: Five identified genes and 34 expressed sequence tags map within the region defined by crossover analysis and merit further consideration as candidate genes for this disease.
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that shows familial, autosomal dominant inheritance in 10%–15% of cases. Previous genetic analysis of one large family linked a recessive form of familial ALS (FALS-AR type 3) to the chromosome 2q33–35 region. Using additional polymorphic markers, we have narrowed the size of the linked region to approximately 1.7 cM by linkage and haplotype analysis. We have also established a yeast artificial chromosome contig across the locus that covers an approximate physical distance of 3 million bases. Based on this contig, genes and expressed sequences that map near the 2q33 region have been examined to determine whether they are located within this ALS2 candidate locus. Five identified genes and 34 expressed sequence tags map within the region defined by crossover analysis and merit further consideration as candidate genes for this disease.
26 citations
4 citations
TL;DR: The chromosome 2cen-q13 locus does not explain a substantial amount of genetic variation in familial POAG, suggesting that the most common subtype of glaucoma in the United States is Primary open angle POAG.
Abstract: Glaucoma is one of the leading causes of irreversible blindness in the world and is characterized by elevated intraocular pressure, optic nerve atrophy, and progressive visual field loss. Primary open
4 citations
TL;DR: The data do not support an association of A ACT-155 with risk or age at onset in AD, and there was no evidence of an interaction between APOE-4 and the AACT-155 allele to reduceAge at onset.
4 citations
TL;DR: The goal of this appendix is to introduce the reader to some of the most useful reference map resources now available through the World Wide Web, and the most likely to remain stable, and thus to remain useful for the human gene mapper.
Abstract: The goal of this appendix is to introduce the reader to some of the most useful reference map resources now available through the World Wide Web (WWW). The maps presented in earlier versions of this appendix have been eliminated, since they are no longer updated and the most common methods of access and retrieval of up-to-date reference maps are now through the WWW. It should be noted that the very nature of the WWW is dynamic change. New sites appear and old ones disappear with somewhat disruptive regularity. The sites mentioned here are the most likely to remain stable, and thus to remain useful for the human gene mapper.
Journal Article•