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Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family

AMERICAN JOURNAL OF HUMAN GENETICS 2000年第2期67卷 405-416页

作者： Greenwood, CMT Fujiwara, TM Boothroyd, LJ Miller, MA Frappier, D Fanning, EA Schurr, E Morgan, K McGill Univ Dept Human Genet Montreal PQ H3G 1A4 Canada McGill Univ Dept Med Montreal PQ H3G 1A4 Canada McGill Univ Dept Epidemiol & Biostat Montreal PQ H3G 1A4 Canada McGill Univ McGill Ctr Study Host Resistance Montreal PQ H3G 1A4 Canada McGill Univ Dept Biochem Montreal PQ H3G 1A4 Canada McGill Univ Montreal Gen Hosp Res Inst Montreal PQ H3G 1A4 Canada Univ Alberta Dept Med Edmonton AB Canada

An epidemic of tuberculosis occurred in a community of Aboriginal Canadians during the period 1987-89. Genetic and epidemiologic data were collected on an extended family from this community, and the evidence for linkage to NRAMP1, a candidate gene for susceptibility to mycobacterial diseases, was assessed. Individuals were grouped into risk (liability) classes leased on vaccination, age, previous disease, and tuberculin skin-test results. Under the assumption of a dominant mode of inheritance and a relative risk of 10, which is associated with the high-risk genotypes, a maximum LOD score of 3.81 was observed for linkage between a tuberculosis-susceptibility locus and D2S424, which is located just distal to NRAMP1, in chromosome region 2q35. Significant linkage was also observed between a tuberculosis-susceptibility locus and a haplotype of 10 NRAMP1 intragenic variants. No linkage to the major histocompatibility-complex region on chromosome 6p was observed, despite distortion of transmission from one member of the oldest couple to their affected offspring. The ability to assign individuals to risk classes was crucial to the success of this study.

关键词： .Haplotype extended mode of inheritance evidence for linkage relative risk high-risk Montreal General Hospital Linkage of Tuberculosis Epidemiology and Biostatistics NRAMP epidemic of tuberculosis Aboriginal Canadians

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Power comparison of parametric and nonparametric linkage tests in small pedigrees

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AMERICAN JOURNAL OF HUMAN GENETICS 2000年第5期66卷 1661-1668页

作者： Sham, PC Lin, MW Zhao, JH Curtis, D Inst Psychiat Dept Psychiat London SE5 8AF England Inst Psychiat Dept Biostat & Comp London SE5 8AF England Royal London Hosp Dept Adult Psychiat London E1 1BB England

When the mode of inheritance of a disease is unknown, the LOD-score method of linkage analysis must take into account uncertainties in model parameters. We have previously proposed a parametric linkage test called "MFLOD," which does not require specification of disease model parameters. In the present study, we introduce two new model-free parametric linkage tests, known as "MLOD" and "MALOD." These tests are defined, respectively, as the LOD score and the admixture LOD score, maximized (subject to the same constraints as MFLOD) over disease-model parameters. We compared the power of these three parametric linkage tests and that of two nonparametric linkage tests, NPLall, and NPLpairs, which are implemented in GENEHUNTER. With the use of small pedigrees and a fully informative marker, we found the powers of MLOD, NPLall, and NPLpairs, to be almost equivalent to each other and not far below that of a LOD-score analysis performed under the assumption the correct genetic parameters. Thus, linkage analysis is not much hindered by uncertain mode of inheritance. The results also suggest that both parametric and nonparametric methods are suitable for linkage analysis of complex disorders in small pedigrees. However, whether these results apply to large pedigrees remains to be answered.

关键词： .present study nonparametric mode of inheritance disease model admixture lod-score maximized small pedigrees Linkage Tests Power Comparison parametric linkage MFLOD model-free MLOD MALOD NPLall NPLpairs

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Retinitis pigmentosa: Distribution of inheritance patterns in a VA blind rehabilitation center population

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Clinical Eye and Vision Care 2000年第3-4期12.0卷 107-112页

作者： Ecklund Winters, Janis Illinois College of Optometry Chicago IL 60616 3241 S. Michigan Avenue United States

Objectives: This purpose of this study was to characterize retinitis pigmentosa (RP) patients at the Southeastern Blind Rehabilitation Center (SBRC) by inheritance pattern, and compare the results with similar studies. Study Design: Records of all RP patients who were in the blind rehabilitation program at the SBRC between 1989 and 1993 were reviewed (n=50). Patients were included in the study who could be personally contacted and whose records were complete (n=43). Pedigrees were obtained through review of records and patient interviews. Results: The analysis showed 24 patients (55.8%) were simplex (no family history of RP), 8 patients (18.6%) were autosomal dominant, 4 patients (9.3%) were probable autosomal dominant, 4 patients (9.3%) were autosomal recessive, 2 patients (4.7%) were probable autosomal recessive and 1 patient (2.3%) was X-linked recessive. Conclusions: Unique trends were apparent in the distribution of inheritance patterns. Clinicians should be aware of the large number of simplex patients found in this and the majority of similar studies. © 2000 Elsevier Science Ireland Ltd.

关键词： Autosomal dominant Autosomal recessive mode of inheritance Retinitis pigmentosa Simplex X-linked recessive

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inheritance of allozyme in Shorea Leprosula (Dipterocarpaceae)

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Journal of Tropical Forest Science 2000年第1期12卷 124-138页

作者： Lee, S.L. Wickneswari, R. Mahani, M.C. Zakri, A.H. Forest Research Institute Malaysia Kepong 52109 Kuala Lumpur Malaysia Department of Genetics University Kebangsaan Malaysia 43600 Bangi Selangor Malaysia

Thirty-four to one hundred seeds from 14 half-sib families of Shorea leprosula were analysed by starch gel electrophoresis in order to verify the genetic control and mode of inheritance of allozyme loci. Of 29 enzyme systems investigated, 11 (AAT, EST, GDH, GPI, IDH, MDH, ME, PGM, SDH, TPI and UGP) exhibited high enzyme activity. To avoid uncertainties in genotyping, enzyme systems from these which were ontogenetically unstable (GDH), tissue specific (AAT), or had complex banding patterns (EST, ME and TPI) were excluded in genetic analyses. Of the remaining 6 enzyme systems (GPI, IDH, MDH, PGM, SDH and UGP), 10 codominant allozyme loci (Gpi-2, Pgm, Idh, Mdh-1, Mdh-2, Mdh-3, Sdh-1, Sdh-2, Ugp-1 and Ugp-2) were intuitively postulated. Genetic analysis utilising single trees and their progenies supported the intuitive interpretation of all 10 proposed loci, with the exception of Mdh-1. For Mdh-3, since maternal heterozygous trees were unavailable, the hypothesis of genetic control must be considered as preliminary.

关键词： Allozyme Dipterocarpaceae Malaysia mode of inheritance Shorea leprosula Starch gel electrophoresis

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Direct power comparisons between simple LOD scores and NPL scores for linkage analysis in complex diseases

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AMERICAN JOURNAL OF HUMAN GENETICS 1999年第3期65卷 847-857页

作者： Abreu, PC Greenberg, DA Hodge, SE CUNY Mt Sinai Med Ctr Dept Psychiat New York NY 10029 USA CUNY Mt Sinai Med Ctr Dept Biomath New York NY 10029 USA New York State Psychiat Inst Div Clin Genet Epidemiol New York NY 10032 USA Columbia Univ Coll Phys & Surg Dept Psychiat New York NY 10027 USA Columbia Univ Sch Publ Hlth Div Biostat New York NY 10027 USA

Several methods have been proposed for linkage analysis of complex traits with unknown mode of inheritance. These methods include the LOD score maximized over disease models (MMLS) and the "nonparametric" linkage (NPL) statistic. In previous work, we evaluated the increase of type I error when maximizing over two or more genetic models, and we compared the power of MMLS to detect linkage, in a number of complex modes of inheritance, with analysis assuming the true model. In the present study, we compare MMLS and NPL directly. We simulated 100 data sets with 20 families each, using 26 generating models: (1) 4 intermediate models (penetrance of heterozygote between that of the two homozygotes);(2) 6 two-locus additive models;and (3) 16 two-locus heterogeneity models (admixture alpha = 1.0, .7, .5, and .3;alpha = 1.0 replicates simple Mendelian models). For LOD scores, we assumed dominant and recessive inheritance with 50% penetrance. We took the higher of the two maximum LOD scores and subtracted 0.3 to correct for multiple tests (MMLS-C). We compared expected maximum LOD scores and power, using MMLS-C and NPL as well as the true model. Since NPL uses only the affected family members, we also performed an affecteds-only analysis using MMLS-C. The MMLS-C was both uniformly more powerful than NPL for most cases we examined, except when linkage information was low, and close to the results for the true model under locus heterogeneity. We still found better power for the MMLS-C compared with NPL in affecteds-only analysis. The results show that use of two simple modes of inheritance at a fixed penetrance can have more power than NPL when the trait mode of inheritance is complex and when there is heterogeneity in the data set.

关键词： .detect type error nonparametric additive scores mode of inheritance Complex Diseases LOD score penetrance true model Power Comparisons NPL statistic MMLS and NPL

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Methods of analysis and resources available for genetic trait mapping

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JOURNAL OF HEREDITY 1999年第1期90卷 68-70页

作者： Ott, J Rockefeller Univ New York NY 10021 USA

Methods of genetic linkage analysis are reviewed and put in context with other mapping techniques. Sources of information are outlined (books, web sites, computer programs). Special consideration is given to statistic... 详细信息

关键词： .computer programs disease gene nonparametric mode of inheritance pedigree localize genetic mapping genetic linkage MapMaker

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A new observation of two cases of acrofacial dysostosis type Genee-Wiedemann in a family - Remarks on the mode of inheritance: Report on two sibs

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AMERICAN JOURNAL OF MEDICAL GENETICS 1996年第4期64卷 556-562页

作者： Neumann, L Pelz, J Kunze, J HUMBOLDT UNIV BERLIN CHILDRENS HOSPKLINIKUM RUDOLF VIRCHOWD-13353 BERLINGERMANY HUMBOLDT UNIV BERLIN INST HUMAN GENETBERLINGERMANY

We report on a Yugloslavian sibpair with postaxial acrofacial dysostosis type Genee-Wiedemann with some novel signs which broaden the spectrum of this syndrome. The manifestations of the present cases are compared with those of the previously described patients. Life expectancy, change of symptoms over time, and the mode of inheritance are discussed. (C) 1996 Wiley-Liss, Inc.

关键词： Genee-Wiedemann syndrome sibs postaxial acrofacial dysostosis (POADS) Miller syndrome mode of inheritance

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Segregation analysis of Parkinson disease

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American Journal of Medical Genetics Part A 1998年第4期80卷

作者： Sepideh Zareparsi Todd D. Taylor Emily L. Harris Haydeh Payami Department of Molecular and Medical Genetics Oregon Health Sciences University Portland Oregon Department of Public Health and Preventive Medicine Oregon Health Sciences University Portland Oregon Kaiser Permanente Center for Health Research Portland Oregon Department of Neurology Oregon Health Sciences University Portland Oregon

Parkinson disease (PD) is a prevalent movement disorder of unknown cause whose incidence rises with increasing age. Nearly 20% of PD is familial, a small subset of which exhibits autosomal dominant transmission. However, in most families, the inheritance is not clear. To determine the most likely mode of inheritance of PD, we performed complex segregation analyses using kindreds of 136 PD patients randomly ascertained from a clinic population. The hypotheses of a nontransmissible environmental factor, no major gene or type (sporadic), and all Mendelian inheritance (dominant, recessive, additive, decreasing) were rejected ( P <0.001). Familial clustering of PD in this data set is best explained by a rare familial factor which a) is transmitted in a non-Mendelian fashion, and b) influences the age at onset of PD. If confirmed, our results have immediate implications in gene-mapping studies which often search for genes that behave in a Mendelian fashion that affect susceptibility rather than age at onset and long term implications in understanding the pathogenesis of PD. Am. J. Med. Genet. 80:410–417, 1998. © 1998 Wiley-Liss, Inc.

关键词： Parkinson disease segregation analysis genetics mode of inheritance age at onset susceptibility

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Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis?

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JOURNAL OF AFFECTIVE DISORDERS 1997年第2-3期44卷 153-157页

作者： Alda, M Grof, E Cavazzoni, P Duffy, A Martin, R Ravindran, L Grof, P Department of Psychiatry Institute of Mental Health Research University of Ottawa Ottawa Canada

In this paper we report the results of a study of the mode of inheritance in affective disorders responsive to lithium. Earlier we described a series of 71 families in which the genetic transmission was compatible with a single-gene model. We have now carried out an independent replication study on 25 newly recruited families in a different geographical location. The autosomal recessive model from our original study could not be rejected with the new data. In a subsequent analysis of the pooled sample of 96 families, a recessive model with a common predisposing allele (q=0.16) and sex-specific penetrance (0.35 in males, 0.66 in females) fitted the data best. On the other hand, X-chromosome and polygenic models could be rejected. The finding of a major-gene effect represents a specific hypothesis that can be tested by molecular genetic techniques. (C) 1997 Elsevier Science B.V.

关键词： lithium affective disorders bipolar disorder mode of inheritance heterogeneity

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Genetic epidemiology of epilepsy

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EPIDEMIOLOGIC REVIEWS 1997年第1期19卷 120-128页

作者： Ottman, R COLUMBIA UNIV SCH PUBL HLTH DIV EPIDEMIOL NEW YORK NY 10032 USA NEW YORK STATE PSYCHIAT INST & HOSP EPIDEMIOL BRAIN DISORDERS RES DEV NEW YORK NY 10032 USA

Although evidence is strong for an important ge- netic influence on susceptibility to epilepsy, for the majority of patients the specific genetic influences remain to be identified. Identification of genes influ- encing susceptibility to epilepsy holds great promise for future studies. It could facilitate early identification of susceptible individuals, early treatment, and, per- haps, prevention of the disorder in some individuals. It is also a first step in investigating the physiologic effects of susceptibility genes, leading to better under- standing of pathogenesis and to development of new strategies for treatment and prevention.

关键词： .Heterogeneity Previous studies nervous system allele Genetic Influences Genetic Epidemiology mode of inheritance unprovoked genetic contributions susceptibility genotypes influence risk different families

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