scholarly journals Complex Segregation Analysis Provides Evidence for Autosomal Dominant Transmission in the Chinese Han Families with Ankylosing Spondylitis

2017 ◽  
Vol 2017 ◽  
pp. 1-6
Author(s):  
Yutong Jiang ◽  
Qing Lv ◽  
Shaoqi Rao ◽  
Zetao Liao ◽  
Pingping Zhang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
General Model ◽  
Segregation Analysis ◽  
Familial Aggregation ◽  
Major Gene ◽  
Dominant Mode ◽  
Chinese Han ◽  
Complex Segregation Analysis ◽  
Familial Association ◽  
Mode Of Inheritance

Introduction. Familial aggregation of ankylosing spondylitis (AS) has been frequently noticed. However, the mode of inheritance in AS remains poorly understood. Our aim was to determine the mode of inheritance best fitting the observed transmission pattern of AS families. Methods. Families with 5 or more AS patients diagnosed with 1984 modified New York criteria were recruited. We performed complex segregation analysis for a binary trait in regressive multivariate logistic models. The inheritance models, including sporadic, major gene, environmental, general, and other 9 models, were compared by likelihood ratio tests and Akaike’s Information Criterion. Results. This research included 9 Chinese Han AS families with a total number of 315 persons, including 74 patients. First, familial association was determined. Sporadic with familial association model was rejected when compared with either the general model or the homogeneous general model (p<0.001). The environmental model was also rejected when compared with general models (p<0.02). Mendelian dominate mode fitted best in 5 AS families, while Tau AB free model best explained the mode of inheritance in these AS families. Conclusion. This study provided evidence in support of Mendelian dominant mode and firstly discovered a non-Mendelian mode called tau AB free inheritance mode in AS.

Complex segregation analysis of restless legs syndrome provides evidence for an autosomal dominant mode of inheritance in early age at onset families

2002 ◽  
Vol 52 (3) ◽  
pp. 297-302 ◽  
Author(s):  
Juliane Winkelmann ◽  
Bertram Muller-Myhsok ◽  
Hans-Ulrich Wittchen ◽  
Bettina Hock ◽  
Muriel Prager ◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Age At Onset ◽  
Dominant Mode ◽  
Early Age ◽  
Restless Legs ◽  
Complex Segregation Analysis ◽  
Mode Of Inheritance

scholarly journals Evidence for biological inheritance of the eosinophil response to internal parasites in southeastern Brazil

1999 ◽  
Vol 22 (4) ◽  
pp. 481-485 ◽  
Author(s):  
Fátima Conti ◽  
Glória M. Duccini Dal' Colletto ◽  
Mary Furlan Feitosa ◽  
Henrique Krieger
Keyword(s):  
Segregation Analysis ◽  
Familial Aggregation ◽  
Major Gene ◽  
Minas Gerais ◽  
The State ◽  
Southeastern Brazil ◽  
Nuclear Families ◽  
Internal Parasites ◽  
Intestinal Worms

One hundred and seventy-seven individuals belonging to 120 complete or incomplete nuclear families from Bambui, in the State of Minas Gerais, southeastern Brazil, were studied in order to examine causes of variation in the eosinophil rate among subjects infested by intestinal worms with an extra-digestive cycle. Segregation analysis without correction for skewness showed that the hypothesis of the presence of an additive major gene was consistent with the data, although a dominant, recessive, or a multifactorial hypothesis could not account properly for the observed significant familial aggregation. The most parsimonious correction for skewness showed similar results, but could not distinguish between dominant and recessive models, although co-dominance was rejected. Since these models assume that skewness was attributable to the commingling of two distributions, these results seem to agree with those for uncorrected data. These findings suggest that several genetically independent factors determine the resistance/susceptibility to helminth infestation mainly through their ability to influence the eosinophil response.

Autosomal Dominant Gene Transmission in a Large Kindred with Gilles de la Tourette Syndrome

1992 ◽  
Vol 160 (6) ◽  
pp. 845-849 ◽  
Author(s):  
David Curtis ◽  
Mary M. Robertson ◽  
Hugh M. D. Gurling
Keyword(s):  
Linkage Analysis ◽  
Genetic Markers ◽  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Major Gene ◽  
Dominant Gene ◽  
Incomplete Penetrance ◽  
Complex Segregation Analysis ◽  
Diagnostic Instruments ◽  
Autosomal Dominant Fashion

A multiplex kindred ascertained through a single proband with GTS has been systematically investigated with standardised diagnostic instruments for other cases of GTS and related disorders. Complex segregation analysis supported the hypothesis that a single major gene inherited in autosomal dominant fashion but with incomplete penetrance contributed most of the variance in the liability to develop GTS and related disorders. This result is consistent with previous segregation analyses which have employed different methods of ascertainment, and tends to confirm that a proportion of GTS is due to a dominant gene and is suitable for investigation with genetic markers for linkage analysis.

Confirmation of the presence of a major gene for fecundity in Thoka Cheviot sheep by segregation analyses

2001 ◽  
Vol 2001 ◽  
pp. 41-41
Author(s):  
G.A. Walling ◽  
S.C. Bishop ◽  
R. Pong-Wong ◽  
G. Gittus ◽  
A.J.F. Russel ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Major Gene ◽  
Breeding Programme ◽  
Complex Segregation Analysis ◽  
Gene Carriers ◽  
Favourable Allele ◽  
Icelandic Sheep ◽  
Progeny Tests ◽  
The Uk ◽  
Separate Population

The putative Thoka gene, with large effects on fecundity, originated in Icelandic sheep. The gene was introduced to the UK in 1985 through a programme of crossbreeding and established in Cheviot sheep (Russel et al., 1997). Ewes have been retained in the flock as putative Thoka gene carriers if they have lambed in each of the first three years and had at least two sets of twins. Progeny tests on a separate population of ewes have been used on two occasions to identify rams believed to carry the gene. Despite this complex breeding programme, the actual segregation of a gene for fecundity has yet to be unambiguously demonstrated in this flock. The purpose of this study is to use complex segregation analysis to demonstrate the existence of this gene, estimate the size of its effect and frequency of the favourable allele within the population.

scholarly journals Inheritance of litter size at birth in the Brazilian grass mouse (Akodon cursor, Sigmodontinae, Rodentia)

2002 ◽  
Vol 80 (1) ◽  
pp. 55-62 ◽  
Author(s):  
YU. S. AULCHENKO ◽  
L. O. ARARIPE ◽  
P. S. D'ANDREA ◽  
A. A. SHISHKIN ◽  
R. CERQUEIRA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Litter Size ◽  
Significant Influence ◽  
Segregation Analysis ◽  
Genetic Factors ◽  
Major Gene ◽  
Gene Model ◽  
Complex Segregation Analysis ◽  
Size At Birth

By means of complex segregation analysis we studied the inheritance of litter size in two large pedigrees of captive-bred colonies of the Brazilian grass mouse Akodon cursor. Genetic analysis has revealed a highly significant influence of genetic factors on the variation of litter size (heritability, h2, was estimated as 0.44). The inheritance followed the classical polygene model: neither the major-gene model nor the polygene with unequal contribution model described the data significantly better.

scholarly journals Analyses for the Presence of a Major Gene Affecting Uterine Capacity in Unilaterally Ovariectomized Rabbits

Genetics ◽  
2003 ◽  
Vol 163 (3) ◽  
pp. 1061-1068 ◽  
Author(s):  
M J Argente ◽  
A Blasco ◽  
J A Ortega ◽  
C S Haley ◽  
P M Visscher
Keyword(s):  
High Frequency ◽  
Segregation Analysis ◽  
Major Gene ◽  
Reproductive Traits ◽  
Large Contribution ◽  
Embryo Survival ◽  
Fetal Survival ◽  
Complex Segregation Analysis ◽  
Bartlett’S Test ◽  
Estimated Breeding Values

Abstract The presence of a major gene for uterine capacity (UC), ovulation rate (OR), number of implanted embryos (IE), embryo survival (ES), fetal survival (FS), and prenatal survival (PS) was investigated in a population of rabbits divergently selected for UC for 10 generations. Selection was performed on estimated breeding values for UC up to four parities. UC was estimated as litter size in the remaining overcrowded horn of unilaterally ovariectomized does. OR and IE were counted by means of laparoscopy. Bartlett’s test, Fain’s test, and a complex segregation analysis using Bayesian methods were used to test for the presence of a major gene. All three tests showed that the data appeared consistent with the presence of a major gene affecting UC and IE. The results of the complex segregation analysis suggested the presence of a major gene with large effect on IE and ES (a &gt; 1σp), at high frequency (p = 0.70 and 0.68, respectively), and with a large contribution to the total variance (Rg = 0.39 and 0.47, respectively); and the presence of a major gene with moderate effect on each of OR, FS, PS, and UC. The results suggest that the studied reproductive traits are determined genetically by at least one gene of large effect.

scholarly journals Familial Segregation of Venous Thromboembolism in Sweden: A Nationwide Family Study of Heritability and Complex Segregation Analysis

2021 ◽  
Author(s):  
Bengt Zöller ◽  
MirNabi Pirouzifard ◽  
Peter J. Svensson ◽  
Björn Holmquist ◽  
Emelie Stenman ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Segregation Analysis ◽  
First Generation ◽  
Family Study ◽  
Familial Aggregation ◽  
Major Type ◽  
Shared Environment ◽  
Complex Segregation Analysis ◽  
Swedish Patient ◽  
Selection Of

Background This is the first nationwide segregation analysis that aimed to determine whether familial venous thromboembolism (VTE) is attributable to inheritance and/or shared environment, and the possible mode of inheritance. Methods and Results The Swedish Multi‐Generation Register was linked to the Swedish patient register for the period 1964 to 2015. Three generational families of Swedish‐born individuals were identified. Heritability was examined using Falconer regression. Complex segregation analysis was conducted using the Statistical Analysis for Genetic Epidemiology software (version 6.4, 64‐bit Linux). Among the 4 301 174 relatives from 450 558 pedigrees, 177 865 (52% women) individuals were affected with VTE. VTE occurred in 2 or more affected relatives in 61 217 (13.6%) of the pedigrees. Heritability showed age and sex dependence with higher heritability for men and young individuals. In 18 933 pedigrees, VTE occurred only in the first generation and was not inherited. Segregation analysis was performed in the remaining 42 284 pedigrees with inherited VTE and included 939 192 individuals. Prevalence constraints were imposed in the models to allow for the selection of the pedigrees analyzed. The sporadic nongenetic model could be discarded. The major‐type‐only model, with a correlation structure compatible with some polygenic effects, was the preferred model. Among the Mendelian models, the mixed codominant (plus polygenic) model was preferred. Conclusions This nationwide segregation analysis of VTE supports a genetic cause of the familial aggregation of VTE. Heritability was higher for men and younger individuals, suggesting a Carter effect, in agreement with a multifactorial threshold inheritance.

scholarly journals Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
John Castiblanco ◽  
Juan Camilo Sarmiento-Monroy ◽  
Ruben Dario Mantilla ◽  
Adriana Rojas-Villarraga ◽  
Juan-Manuel Anaya
Keyword(s):  
Early Onset ◽  
Segregation Analysis ◽  
Age Of Onset ◽  
Late Onset ◽  
Familial Aggregation ◽  
Major Gene ◽  
Sibling Pairs ◽  
Autoimmune Syndrome ◽  
Multiple Autoimmune Syndrome ◽  
Increased Risk

Studies documenting increased risk of developing autoimmune diseases (ADs) have shown that these conditions share several immunogenetic mechanisms (i.e., the autoimmune tautology). This report explored familial aggregation and segregation of AD, polyautoimmunity, and multiple autoimmune syndrome (MAS) in 210 families. Familial aggregation was examined for first-degree relatives. Segregation analysis was implemented as in S.A.G.E. release 6.3. Data showed differences between late- and early-onset families regarding their age, age of onset, and sex. Familial aggregation of AD in late- and early-onset families was observed. For polyautoimmunity as a trait, only aggregation was observed between sibling pairs in late-onset families. No aggregation was observed for MAS. Segregation analyses for AD suggested major gene(s) with no clear discernible classical known Mendelian transmission in late-onset families, while for polyautoimmunity and MAS no model was implied. Data suggest that polyautoimmunity and MAS are not independent traits and that gender, age, and age of onset are interrelated factors influencing autoimmunity.

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