scholarly journals Pedigree Analysis of Constitutional Delay of Growth and Maturation: Determination of Familial Aggregation and Inheritance Patterns

2002 ◽  
Vol 87 (12) ◽  
pp. 5581-5586 ◽  
Author(s):  
Ines L. Sedlmeyer ◽  
Joel N. Hirschhorn ◽  
Mark R. Palmert
Keyword(s):  
Familial Aggregation ◽  
Pedigree Analysis ◽  
Inheritance Patterns ◽  
Constitutional Delay

Pedigree analysis of lumbar developmental spinal stenosis: Determination of potential inheritance patterns

2020 ◽  
Author(s):  
Marcus K. L. Lai ◽  
Prudence W. H. Cheung ◽  
You‐Qiang Song ◽  
Dino Samartzis ◽  
Jason P. Y. Cheung
Keyword(s):  
Spinal Stenosis ◽  
Pedigree Analysis ◽  
Inheritance Patterns

An Algorithm for the Rapid Analysis of Genetic Pedigrees

2013 ◽  
Vol 75 (9) ◽  
pp. 710-712
Author(s):  
S. Randolph May
Keyword(s):  
Rapid Determination ◽  
Single Gene ◽  
Rapid Analysis ◽  
Inheritance Patterns

An algorithm has been developed for the rapid determination of single-gene inheritance patterns from genetic pedigrees.

Testing Models for Genetic Determination in Migraine

Cephalalgia ◽  
1993 ◽  
Vol 13 (6) ◽  
pp. 389-394 ◽  
Author(s):  
M Mochi ◽  
S Sangiorgi ◽  
P Cortelli ◽  
V Carelli ◽  
C Scapoli ◽  
...  
Keyword(s):  
Migraine Without Aura ◽  
Segregation Analysis ◽  
Autosomal Recessive ◽  
Phenotypic Expression ◽  
Pedigree Analysis ◽  
The Other ◽  
Genetic Determination ◽  
Reduced Penetrance ◽  
Matched Samples

We collected two clinically matched samples of patients, one sample affected by migraine with aura the other by migraine without aura, to investigate the genetic determination of these conditions. A maternal and X-linked transmission for both these diseases was considered unlikely after pedigree analysis. Classical segregation analysis indicated a likely autosomal recessive kind of transmission for both. Reduced penetrance and the h2 values, however, imply the presence of additional genetic and/or environmental factors controlling the phenotypic expression of migraine.

scholarly journals Prevalence of Phenylthiocarbamide (PTC) Taste Sensitivity and Colour Blindness in Tengger Tribe Population, Ranupani Village, Senduro, Lumajang

2021 ◽  
Vol 9 (4) ◽  
pp. 174
Author(s):  
Rike Oktarianti ◽  
Iguh Widigda Putra ◽  
Resmining Mega Arofa ◽  
Asmoro Lelono
Keyword(s):  
Allele Frequency ◽  
Autosomal Dominant ◽  
Color Blindness ◽  
Pedigree Analysis ◽  
Dominant Trait ◽  
Genetic Trait ◽  
Autosomal Dominant Trait ◽  
Colour Blindness ◽  
Color Blind

The taste of sensitivity of phenylthiocarbamide (PTC), is autosomal dominant trait inherited while the colour blindness is a sex linked genetic trait on the X chromosome. The purpose of this study was to determine the distribution of taster and non taster phenotypes, prevalence of color blindness, frequency of taster and non taster alleles, and frequency of color blind alleles, as well as pedigree analysis in non taster and color blind families. The research was conducted on the Tengger tribe, in Ranupani village, Senduro, Lumajang. Determination of the sample is carryout randomly. Detection of the ability to taste PTC was respondents to taste the PTC solution from the lowest concentration of 0.32mg/L (P13) to the highest concentration of 1300 mg/L (P1). Color blindness detection by the Ishihara method. The results of the study showed that the distribution of the taster was 98.1% while the non-taster was 1.9%. The allele frequency of the dominant taster (T) was 0.86 and the recessive allele non taster (t) is 0.14. The prevalence of color blindness in the population of the Tengger tribe was 0.63% and the allele frequency for color blindness was 0.013. The pedigree analysis of non taster family showed that non taster individuals were born from taster couple (Tt) or from couple of non taster (tt) with tasters (Tt) heterozigot. While the pattern of inheritance of color blindness was criss-cross inheritance pattern, which is passed from mother to son.

M2013 Cyclic Vomiting Syndrome: Quantitative Pedigree Analysis for Maternal Inheritance Patterns in Adults and Children

2010 ◽  
Vol 138 (5) ◽  
pp. S-458 ◽  
Author(s):  
Thangam Venkatesan ◽  
Stephanie Wagler ◽  
Nilay Kumar ◽  
Jyotirmoy Sengupta ◽  
Abhilasha Pandey ◽  
...  
Keyword(s):  
Maternal Inheritance ◽  
Pedigree Analysis ◽  
Cyclic Vomiting Syndrome ◽  
Inheritance Patterns ◽  
Adults And Children ◽  
Cyclic Vomiting

Longitudinal Increases in Serum Insulin-like Factor 3 and Testosterone Determined by LC-MS/MS in Pubertal Danish Boys

2020 ◽  
Vol 105 (10) ◽  
pp. 3173-3178 ◽  
Author(s):  
Jakob Albrethsen ◽  
Marie Lindhardt Ljubicic ◽  
Anders Juul
Keyword(s):  
Serum Insulin ◽  
Hypogonadotropic Hypogonadism ◽  
Peptide Hormone ◽  
Delayed Puberty ◽  
Serum Concentrations ◽  
Serum Lh ◽  
Constitutional Delay ◽  
Diagnostic Role

Abstract Background Serum concentrations of the peptide hormone insulin-like factor 3 (INSL3) is a candidate marker for improved distinction between constitutional delay of growth and puberty (CDGP) and permanent hypogonadotropic hypogonadism (HH) in boys. Aim To assess the possible diagnostic role of LC-MS/MS-based INSL3 measurements as a marker of imminent puberty by comparison with testosterone (T) and luteinizing hormone (LH) levels in serum longitudinally collected from 18 healthy boys throughout puberty. Results The first increase in serum LH was detected on average 4 months earlier, as compared with the first observed increases in INSL3 and T. When comparing the 2 testicular hormones only, we found that in 22% (4 of 18) of the boys the first increase in serum INSL3 was observed prior to the first observed increase in T, whereas in 44% (8 of 18) the first increase in T was observed before the first observed increase in INSL3. In the remaining 6 boys, the 2 testicular hormones showed the first increase at the same examination. Conclusion In some boys with delayed puberty, the first indication of testicular maturation may be detectable by observing serum INSL3. Further studies of LC-MS/MS determination of serum INSL3 in patients with CDGP and HH are warranted.

scholarly journals Analysis of the relationship between coefficients of relatedness and molecular similarity of parental forms with respect to the heterosis effect in maize

2013 ◽  
Vol 50 (1) ◽  
pp. 39-52
Author(s):  
Agnieszka Tomkowiak ◽  
Zbigniew Broda ◽  
Krzysztof Moliński ◽  
Marta Molińska-Glura ◽  
Józef Adamczyk
Keyword(s):  
Molecular Markers ◽  
Molecular Similarity ◽  
Pedigree Analysis ◽  
Molecular Techniques ◽  
Pedigree Information ◽  
Genetic Purity ◽  
Heterotic Groups ◽  
Heterosis Effect ◽  
Selection Of

SUMMARY Within the last twenty years studies have been conducted at many research centers with the aim of dividing breeding materials into heterotic groups based on molecular markers. Molecular techniques make it possible to study the genetic purity of inbred lines, determine their genetic variability and classify breeding materials for which no information is available on their origin. This study aims to investigate relationships between coefficients of relatedness (pedigree analysis) and molecular similarity estimated on the basis of AFLP and RAPD molecular markers, between parental forms of F1 maize hybrids. Determination of these relationships will make it possible to establish a hierarchy of importance for applied methods concerning selection of parental components for heterotic crossings based on the degree of relatedness and genetic similarity. As a result of the experiment it was shown that in the case of incomplete pedigree information, in the selection of parental components for crossings we may use information concerning molecular similarity determined using AFLP markers and the Jaccard index, which to the least degree differentiates matrices of AFLP and RAPD molecular similarity.

scholarly journals Ventricular arrhythmias in Rhodesian Ridgebacks with a family history of sudden death and results of a pedigree analysis for potential inheritance patterns

2016 ◽  
Vol 248 (10) ◽  
pp. 1135-1138 ◽  
Author(s):  
Kathryn M. Meurs ◽  
Jess A. Weidman ◽  
Steven L. Rosenthal ◽  
Kevin K. Lahmers ◽  
Steven G. Friedenberg
Keyword(s):  
Family History ◽  
Sudden Death ◽  
Ventricular Arrhythmias ◽  
Pedigree Analysis ◽  
Inheritance Patterns ◽  
History Of
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