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 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 Thyroid Autoantibodies: Are They Inherited as an Autosomal Dominant Trait?

1993 ◽  
Vol 43 (3) ◽  
pp. 141-146 ◽  
Author(s):  
D.I.W Phillips ◽  
D.C. Shields ◽  
J.M. Dugoujon ◽  
L. Prentice ◽  
P. McGuffin ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Thyroid Autoantibodies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Complex Segregation Analysis

scholarly journals The May-Hegglin Anomaly: Platelet Function, Ultrastructure and Chromosome Studies

Blood ◽  
1968 ◽  
Vol 32 (6) ◽  
pp. 950-961 ◽  
Author(s):  
JEANNE M. LUSHER ◽  
JOHN SCHNEIDER ◽  
I. MIZUKAMI ◽  
RUTH K. EVANS
Keyword(s):  
Platelet Function ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Bleeding Tendency ◽  
Function Defect ◽  
Father And Son ◽  
Mode Of Inheritance

Abstract A father and son with the May-Hegglin anomaly were studied. Both were asymptomatic, although the father had a mild thrombocytopenia and a probable platelet thromboplastic function defect. Possible mechanisms for the bleeding tendency observed in approximately one-fourth of the persons with this anomaly are discussed. The autosomal dominant mode of inheritance is again demonstrated, and both father and son were found to have normal chromosomes.

scholarly journals The Hairy Family of Burma: A Four Generation Pedigree of Congenital Hypertrichosis Lanuginosa

1996 ◽  
Vol 89 (7) ◽  
pp. 403-408 ◽  
Author(s):  
J Bondeson ◽  
A E W Miles
Keyword(s):  
Nineteenth Century ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Good Evidence ◽  
Show Business ◽  
Mode Of Inheritance

A Burmese family with congenital hypertrichosis lanuginosa had an eventful history in the nineteenth century. The earlier members of this family were employed at the court of Ava, but the later ones spent their lives in show business, being widely exhibited for money in the 1880s. Their extraordinary hairiness attracted much curiosity, and they were photographed several times. The hairy Burmese are the only example of a four-generation pedigree of congenital hypertrichosis lanuginosa, which is consistent with an autosomal dominant mode of inheritance. There is good evidence that, when the members of this family were hairy, their dentition was also deficient.

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.

Age-at-onset in restless legs syndrome: A clinical and polysomnographic study

2007 ◽  
Vol 9 (1) ◽  
pp. 54-59 ◽  
Author(s):  
S. Whittom ◽  
Y. Dauvilliers ◽  
M.-H. Pennestri ◽  
F. Vercauteren ◽  
N. Molinari ◽  
...  
Keyword(s):  
Restless Legs Syndrome ◽  
Age At Onset ◽  
Restless Legs
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