Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Blumenfeld, Anat; Slaugenhaupt, Susan A.; Axelrod, Felicia B.; Lucente, Diane; Maayan, Channa; Liebert, Christopher B.; Ozelius, Laurie J.; Trofatter, James A.; Haines, Jonathan L.; Breakefield, Xandra O.; Gusella, James F.

doi:10.1038/ng0693-160

Cited by 136 publications

(51 citation statements)

References 26 publications

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“…cumulative stress, persistent infections) that no single summary penetrance figure is meaningful [33]. Similarly, the expression of type I diabetes among those with genetic susceptibility is very sensitive to diet, infections and a range of external environmental triggers [34].…”

Section: Resilience and Resistance To Disease:who Stays Well And Why?mentioning

confidence: 99%

Biopsychosocial Challenges of the New Millennium

Ryff

Singer²

2000

Psychother Psychosom

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Section: Resilience and Resistance To Disease:who Stays Well And Why?mentioning

confidence: 99%

Biopsychosocial Challenges of the New Millennium

Ryff

Singer²

2000

Psychother Psychosom

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“…These maps, consisting of identifiable features or markers on the genome at known locations, can be used in the search for genes affecting traits of interest. Notable successes have been in human diseases: cystic fibrosis (Kerem et al, 1989), Huntington's disease (Huntington's Collaborative Group, 1992) and familial dysautomia (Blumenfeld et al, 1993). Although methodologies are still being developed, the accomplishments represented by these successes are substantial.…”

Section: Introductionmentioning

confidence: 99%

Statistical issues in the search for genes affecting quantitative traits in experimental populations

Doerge¹,

Zeng²,

Weir³

1997

Statist. Sci.

138

107

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Abstract. This article reviews key contributions in the area of statistics as applied to the use of molecular marker technology and quantitative genetics in the search for genes affecting quantitative traits responsible for specific diseases and economically important agronomic traits. Since an exhaustive literature review is not possible, the limited scope of this work is to encourage further statistical work in this vast field by first reviewing human and domestic species literature, and then concentrating on the statistical developments for experimental breeding populations. Substantial gains have been made over the years by both plant and animal breeders toward a long-term goal of locating genes affecting quantitative traits (quantitative trait loci, QTLs) for the eventual characterization and manipulation of these genes in order to develop improved agronomically important traits. Our main concern is that the care and expense that are required in generating both genetic marker data and quantitative trait data should be accompanied by equal care in the statistical analysis of the data. Through an example using an F 2 male genetic map of mouse chromosome 10, and quantitative trait values measured on weight gain, we implement much of the reviewed methodology for the purpose of detecting or locating a QTL having an effect on weight gain.

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“…Familial dysautonomia (DYS) has been mapped to 9q31-33 (Blumenfeld et al;Blumenfeld et al, 1993) with closest flanking markers D9S172 (proximal) and D9S105 (distal). This disease shows very strong allele association with the highly polymorphic marker D9S58 with which it is very closely linked (lod score 21.1 at q = 0).…”

Section: Cen-q31mentioning

confidence: 99%