Simultaneous Phenotyping of Genetic Markers for Paternity Testing

1987 ◽  
Vol 99 (2) ◽  
Author(s):  
Y. Tamaki ◽  
H. Nishimukai ◽  
T. Kishida ◽  
M. Fukuda
Author(s):  
E. Huguet ◽  
M. Gené ◽  
J. Medallo ◽  
C. García Sánchez ◽  
J. Corbella ◽  
...  

1985 ◽  
Vol 21 (2) ◽  
pp. 297-305 ◽  
Author(s):  
Ranajit Chakraborty ◽  
John M. Opitz ◽  
James F. Reynolds

1979 ◽  
Vol 14 (2) ◽  
pp. 125
Author(s):  
M. Bargagna ◽  
P. Benciolini ◽  
P. Cortivo ◽  
R. Domenici

PEDIATRICS ◽  
1970 ◽  
Vol 45 (4) ◽  
pp. 672-676
Author(s):  
William J. Mellman ◽  
Fred H. Allen ◽  
Lester Baker ◽  
Thomas A. Tedesco

An apparent fresh mutation has been identified at the human transferase locus (Gt) that has resulted in an occurrence of the heterozygous state for galactosemia (Gt+/GtG). The individual concerned is the mother of a child with galactosemia, neither of whose parents was found to be heterozygous for galactosemia. Recently discovered human genetic markers and established blood group antigens have been used to test for non-paternity as an alternative explanation to mutation. Paternity was proven in this instance with greater than 98% confidence. This paper illustrates the feasibility of determining biochemically the mutation rates for specific genetic loci and the improved confidence that can be achieved in paternity testing with more recently described human genetic polymorphisms.


2005 ◽  
Vol 173 (4S) ◽  
pp. 144-145
Author(s):  
Robert K. Nam ◽  
William Zhang ◽  
John Trachtenberg ◽  
Michael A.S. Jewett ◽  
Steven Narod

2006 ◽  
Vol 11 (4) ◽  
pp. 304-311 ◽  
Author(s):  
Lars-Göran Nilsson

This paper presents four domains of markers that have been found to predict later cognitive impairment and neurodegenerative disease. These four domains are (1) data patterns of memory performance, (2) cardiovascular factors, (3) genetic markers, and (4) brain activity. The critical features of each domain are illustrated with data from the longitudinal Betula Study on memory, aging, and health ( Nilsson et al., 1997 ; Nilsson et al., 2004 ). Up to now, early signs regarding these domains have been examined one by one and it has been found that they are associated with later cognitive impairment and neurodegenerative disease. However, it was also found that each marker accounts for only a very small part of the total variance, implying that single markers should not be used as predictors for cognitive decline or neurodegenerative disease. It is discussed whether modeling and simulations should be used as tools to combine markers at different levels to increase the amount of explained variance.


2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.


Sign in / Sign up

Export Citation Format

Share Document