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AGFAP METHOD - APPLICABILITY UNDER DIFFERENT ASCERTAINMENT SCHEMES AND A PARENTAL CONTRIBUTIONS TEST

GENETIC EPIDEMIOLOGY 1993年第5期10卷 289-310页

作者： THOMSON, G Department of Integrative Biology University of California Berkeley

The antigen/allele genotype frequencies among patients (AGFAP) method has been powerful in discriminating between modes of inheritance, and detecting heterogeneity effects, for a number of diseases associated with the HLA system. The method is not dependent on the high level of polymorphism seen in the HLA system, but does require a marker allele association with disease. With recent rapid advances in mapping of the human genome, the method is increasingly relevant in all disease studies. Extension of the AGFAP method to ascertainment schemes other than random sampling of patients is presented here. The method is shown to be robust for distinguishing between incompletely penetrant recessive vs. additive or dominant models if affected children are obtained from nuclear families selected on the basis of at least two affected members: two affected sibs, or an affected parent and affected child. The method can lead to false conclusions for data from families ascertained for at least one affected parent and two affected children. A new test, termed the parental contributions test, applicable in families selected for the presence of an affected parent, and one or more affected children, is presented. The test, based on the expected symmetry (recessive) vs. asymmetry (additive and dominant) of parental marker allele contributions to an affected offspring in these pedigrees, is powerful in distinguishing between these modes of inheritance when there is a marker allele association with disease. Sporadic cases of disease are shown to cause deviations from AGFAP expectations for the recessive model, but not for the additive model. These results will aid in study of the genetics, and hence molecular basis, of complex diseases. (C) 1993 Wiley-Liss, Inc.

关键词： AGFAP METHOD COMPLEX DISEASES mode of inheritance PARENTAL CONTRIBUTIONS HLA ASSOCIATION GENETIC HETEROGENEITY

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BOTH INHERITED HLA-HAPLOTYPES ARE IMPORTANT IN THE PREDISPOSITION TO RHEUMATOID-ARTHRITIS

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BRITISH JOURNAL OF RHEUMATOLOGY 1993年第10期32卷 893-898页

作者： DEIGHTON, CM CAVANAGH, G RIGBY, AS LLOYD, HL WALKER, DJ NO REG BLOOD TRANSFUS SERV NEWCASTLE TYNEENGLAND UNIV MANCHESTER ARTHRITIS & RHEUMAT COUNCILEPIDEMIOL RES UNITMANCHESTER M13 9PLLANCSENGLAND

The distribution of the HLA-DR allele frequencies of 105 RA patients has been compared with the expected distribution underrecessive and dominant modes of inheritance using control data from 2041 controls and the antigen genotype frequency amongpatients methodology. The observed distribution was compatible with a recessive mode of HLA-linked inheritance in RA, witha dominant mode rejected, whether HLA-DR4 was considered alone, or HLA-DR4 and HLADRI were combined as if they were behavingas a single predisposing gene. Mean sibship concordance rates (MSCRs) were calculated for categories of proband HLA-DR *** highest MSCR was seen for HLA-DR4 homozygous probands, and the lowest for HLA-DR2 or 7/non-4 genotypes. These combinedobservations suggest that interactions between both inherited HLA-haplotypes are important in the predisposition to RA.

关键词： RHEUMATOID ARTHRITIS HLA-HAPLOTYPES HLA-DR mode of inheritance

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EPISTATIC modeLING IN RHEUMATOID-ARTHRITIS - AN APPLICATION OF THE RISCH THEORY

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GENETIC EPIDEMIOLOGY 1993年第5期10卷 311-320页

作者： RIGBY, AS VOELM, L SILMAN, AJ UNIV MANCHESTER ARC EPIDEMIOL RES UNITMANCHESTER M13 9PLLANCSENGLAND UNIV CALIF BERKELEY DEPT INTEGRAT BIOLBERKELEYCA 94720

Rheumatoid arthritis (RA) is a disease of unknown etiology but with a presumed complex pattern of inheritance. Risch [Am J Hum Genet 46:222-228, 1990] has shown that the recurrence risk ratio, lamdba(R), (which is defined as the risk to type R relatives vs. the population prevalence) can be used to evaluate patterns of inheritance in genetically complex diseases. We have used the Risch theory to examine some multiple locus models of inheritance in RA. Recurrence risk ratios in MZ twins and in 1st, 2nd, and 3rd degree relatives are summarized from the literature. The limited data available supports at least a two-locus model of inheritance for RA (assuming that one locus is HLA). Better estimates of the recurrence fisk ratios in RA families are required so that the Risch theory can be pursued further. (C) 1993 Wiley-Liss, Inc,

关键词： RHEUMATOID ARTHRITIS EPIDEMIOLOGY MULTIPLE LOCUS modeLS GENETIC HETEROGENEITY mode of inheritance RISK RATIO HLA

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COMMON SWINE LEUKOCYTE ANTIGEN (SLA) HAPLOTYPES IN NIH AND SINCLAIR MINIATURE SWINE HAVE SIMILAR EFFECTS ON THE EXPRESSION OF AN INHERITED MELANOMA

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ANIMAL GENETICS 1993年第3期24卷 191-193页

作者： TISSOT, RG BEATTIE, CW AMOSS, MS WILLIAMS, JD SCHUMACHER, J USDA ARS CLAY CTR NE 68933 USA TEXAS A&M UNIV SYST COLL VET MED COLL STN TX 77843 USA

Mixed lymphocyte culture and serological typing of NIH and Sinclair miniature swine indicate that the two herds share a common SLA haplotype. NIH haplotype a (International Haplotype H10) appears identical to Sinclair haplotype B, which has significant effects on the penetrance of Sinclair swine cutaneous malignant melanoma (SSCM). Offspring of crosses between melanoma-bearing Sinclair swine homozygous for the B haplotype and non-melanoma NIH aa swine have tumour incidence identical to Sinclair melanoma BB x Sinclair non-melanoma BB offspring. Our results provide further support for the involvement of the swine leucocyte antigen (SLA) complex in the inheritance of SSCM, and identify a new source of non-tumour animals that have all of the genes for SSCM except those at the tumour-initiator locus.

关键词： MELANOMA MINIATURE SWINE mode of inheritance SLA HAPLOTYPES

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INVESTIGATING THE HLA COMPONENT IN RHEUMATOID-ARTHRITIS - AN ADDITIVE (DOMINANT) mode of inheritance IS REJECTED, A RECESSIVE mode IS PREFERRED

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GENETIC EPIDEMIOLOGY 1991年第3期8卷 153-175页

作者： RIGBY, AS SILMAN, AJ VOELM, L GREGORY, JC OLLIER, WER KHAN, MA NEPOM, GT THOMSON, G VIRGINIA MASON MED CTR SEATTLEWA 98101 UNIV CALIF BERKELEY DEPT INTEGRAT BIOLBERKELEYCA 94720 CASE WESTERN RESERVE UNIV CLEVELAND METROPOLITAN GEN HOSPCLEVELANDOH 44109

We examined the mode of inheritance of rheumatoid arthritis (RA) and estimated the genetic contribution of the HLA-linked locus to the development of RA using data from 111 multiplex families (54 London, 57 Cleveland), and 43 randomly ascertained patients (Seattle). HLA-DR4 was present in 78 multiplex probands (70%);a further 16 probands who were negative for DR4 were positive for DR1. Both DR4 and DR1 were significantly in excess when compared to control population frequencies (P < 0.001);an additional finding was an excess of DR7, although the numbers of probands with DR7 were small. Despite the well-established HLA association with RA, neither recessive nor additive (dominant) modes of inheritance, nor any intermediate models have been ruled out using affected sib-pair and antigen geno-type frequency among patients (AGFAP) methods. However, in our study the AGFAP data for HLA-DR4 and DRI were close to recessive expectations (P = ns) while an additive (dominant) mode of inheritance was rejected (P < 0.001). The same results were obtained by an independent method which considered HLA-DR transmission from affected parents to their affected children. The affected sib-pair haplotype sharing method showed deviation from random expectations but did not allow discrimination between recessive and additive (dominant) modes. The effect of the HLA-linked locus on familiarity accounted for only a 1.61-fold increased risk to sibs over the population prevalence, compared to an observed value of 3.90. This indicated that there could be at least one other non-HLA locus predisposing to RA with a weight that is slightly greater than that of HLA.

关键词： RHEUMATOID ARTHRITIS GENETIC HETEROGENEITY EPITOPE AFFECTED PARENTS SIB-PAIRS mode of inheritance EPIDEMIOLOGY AGFAP METHOD HLA ASSOCIATION

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inheritance OF ANTIBODY-RESPONSE TO SHEEP ERYTHROCYTES IN LINES OF CHICKENS DIVERGENTLY SELECTED FOR 56-DAY BODY-WEIGHT AND THEIR CROSSES

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POULTRY SCIENCE 1992年第1期71卷 47-52页

作者： MILLER, LL SIEGEL, PB DUNNINGTON, EA VIRGINIA POLYTECH INST & STATE UNIV DEPT POULTRY SCIBLACKSBURGVA 24061

Experiments were conducted to determine the principal mode of inheritance for antibody response to SRBC in selected populations of chickens and their crosses. Additive genetic variation was important in the inheritance of both primary and secondary responses to this antigen. Reciprocal differences and heterosis also influenced the secondary response. Kinetics of primary and secondary antibody responses were evaluated in pairs of lines divergently selected for high (HW) ot ow (LW) juvenile body weight and high (HA) or low (LA) response to SRBC antigen. Different groups of chickens were sampled on Days 3 to 7,10,14,24,26,28, and 31 postprimary inoculation (PPI). Half of the chickens sampled after Day 14 received an additional injection of SRBC antigen. Plasma from each individual was examined for total, mercaptoethanol-resistant, and mercaptoethanol-sensitive titers. Antibody titers PPI to SRBC were consistently highest in Line HA and lowest in Line LA. Lines HW and LW reacted similarly to Line LA early in response, but showed higher levels later. In both primary and secondary responses, the weight lines peaked at similar levels. Thereafter, Line LW maintained a higher antibody titer level to SRBC antigen than Line HW.

关键词： ANTIBODY RESPONSE SHEEP ERYTHROCYTES CHICKENS mode of inheritance BODY WEIGHT

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AFFECTED KIN-PAIR IBD METHODS - GENETIC modeLS

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GENETIC EPIDEMIOLOGY 1991年第5期8卷 317-327页

作者： MOTRO, U THOMSON, G UNIV CALIF BERKELEY DEPT INTEGRAT BIOLBERKELEYCA 94720 HEBREW UNIV JERUSALEM DEPT EVOLUT SYST & ECOLJERUSALEMISRAEL

Cases of interest using affected sib-pair methods to distinguish between recessive and additive (dominant) modes of inheritance of a disease-predisposing gene involve goodness-of-fit tests with a small expected number in the "share-zero parental haplotypes" category, as well as an unknown parameter, the frequency of the disease-predisposing allele. Our simulations demonstrate that the real significance level of the chi-square test using the three-haplotype-sharing IBD values (share 2, 1, and 0 parental haplotypes) is close to the assumed (.05) level in these cases, so that the haplotype-sharing classes do not have to be lumped, which would leave no degrees of freedom for a statistical test- The validity of the chi-square approximation in cases of small expected freqencies has previously been described, but the situations that have been considered do not cover the very small values in the share-zero category that are often expected in the affected sib-pair analysis, nor do they involve estimation of an unknown parameter. Although including- IBD values from affected kin pairs other than sibs can be a very powerful tool in demonstrating linkage of a marker and disease, these pairs do not add power, in fact they reduce the power, of the chi-square tests of goodness-of-fit of modes of inheritance.

关键词： IDENTITY BY DESCENT mode of inheritance DISEASE PARAMETER ESTIMATES

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RENAL PROGNOSIS IN ALPORT AND RELATED SYNDROMES - INFLUENCE OF THE mode of inheritance

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NEPHROLOGY DIALYSIS TRANSPLANTATION 1989年第12期4卷 1016-1021页

作者： POCHET, JM BOBRIE, G LANDAIS, P GOLDFARB, B GRUNFELD, JP Département de Néphrologie Hôpital NeckerParis France Laboratoire de Biostatistique et d'Informatique Médicale Hôpital NeckerParis France

Progressive hereditary nephritis is subdivided into Alport''s syndrome (with extrarenal involvement) and hereditary nephritis without deafness. Three modes of inheritance have been described: X-linked dominant, autosomal dominant, and autosomal recessive. We reviewed the mode of inheritance in 48 kindred with hereditary nephritis (41 with Alport''s syndrome and 7 with hereditary nephritis without deafness). It was presumed X-linked dominant in 34 Alport''s syndrome and 6 hereditary nephritis without deafness, autosomal dominant in five hereditary nephritis and one hereditary nephritis without deafness, and autosomal recessive in two Alport''s syndrome. We studied the cumulative renal survival of 149 patients, 128 (76 males, 52 females) with Alport''s syndrome and 21 (10 males, and 11 females) with hereditary nephritis without deafness. Major prognostic factors were the patient''s sex (median renal survival in males and females being respectively 32 versus 61 years in Alport''s syndrome and 34 versus 57 years in hereditary nephritis without deafness), and the mode of inheritance (median renal survival in males being 25 years in X-linked dominant Alport''s syndrome versus 51 years in autosomal dominant Alport''s syndrome). The presence of hearing loss in the kindred or in the patient himself did not appear as a significant prognostic factor. We conclude that Alport''s syndrome and hereditary nephritis without deafness are predominantly X-linked dominant diseases with the same renal outcome, and that in Alport''s syndrome the patient''s sex and the mode of inheritance are two independent prognostic factors.

关键词： Alport's syndrome mode of inheritance Prognosis

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CYHEXATIN AND FENBUTATIN-OXIDE RESISTANCE IN PACIFIC SPIDER-MITE (ACARI, TETRANYCHIDAE) - STABILITY AND mode of inheritance

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JOURNAL OF ECONOMIC ENTOMOLOGY 1988年第1期81卷 57-64页

作者： HOY, MA CONLEY, J ROBINSON, W UNIV CALIF BERKELEY DEPT GENET BERKELEY CA 94720 USA

The Pacific spider mite, Tetranychus pacificus McGregor, collected from California almond orchards during 1984 and 1985, was tested with cyhexatin and fenbutatin-oxide to determine whether resistance (R) to those acaricides was present. A cyhexatin-resistant colony was selected in the greenhouse with cyhexatin for 15 mo., to obtain a pure colony for genetic analysis. mode-of-inheritance data were consistent with a model in which cyhexatin resistance in this colony is primarily determined by a major semirecessive gene. A flowable formulation of cyhexatin was more toxic to both R and susceptible (S) strains than was the wettable powder formulation. Larvae of the R and S strains exhibited survival rates similar to those of adults. Concentration/mortality lines for both fenbutatin-oxide and cyhexatin were obtained for both R and S strains;results were consistent with the hypothesis that cyhexatin resistance confers fenbutatin-oxide resistance in this population. Greenhouse populations held for 9 mo without selection with cyhexatin retained their original resistance levels, as indicated by the percent survival of colonies initiated from RR, SR, RS, and SS females. Negative fitness did not appear to be associated with the resistance allele under these conditions.

关键词： Arachnida Tetranychus pacificus resistance mode of inheritance

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COMPLEX SEGREGATION ANALYSIS OF DENTAL MORPHOLOGICAL VARIANTS

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AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY 1989年第1期78卷 37-59页

作者： NICHOL, CR ARIZONA STATE UNIV DEPT ANTHROPOL TEMPE AZ 85287 USA

A set of 20 morphological variants of the dental crowns and four characteristics of the jaws are tested for probable mode of inheritance using the complex segregation analysis method of Morton et al. (Am. J. Hum. Genet. 23:602-611, 1971). models tested include three two-allele single-locus models (dominant, codominant, and recessive) and a model employing the polychotomized normal distribution of liability (an additive polygenic model), with transmissibility estimated via maximum likelihood. Most of the traits studied are observed using ordinal scales with several grades, and many are tested using more than one dichotomy of their scale. These multiple analyses allow for an examination of such factors as trait incidence on the results of the statistical analysis. The results of the analysis yield propositions of major genes for 13 of the 24 traits examined. Two traits give good evidence of being polygenic in origin. The remaining nine characters present methodological problems that do not allow for a definite conclusion on their mode of inheritance at this time. The ability to test varying levels of transmissibility in the polygenic model allows for an estimation of the percentage of trait variance determined by familial factors. Estimates of transmissibility for all characters examined range from 0 to 1, with a mean of 0.36. These findings may suggest a large environmental role in the development of dental crown morphology. However, the possibility exists that difficulties in the ability to classify the expression of certain traits consistently result in overestimates of the environmental influences on the development of those characters.

关键词： Dental anthropology Genetics Environmental effects mode of inheritance Crown traits Dental crown

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