Can Autoimmune Mechanisms Account for the Genetic Predisposition to Schizophrenia?

1992 ◽  
Vol 160 (4) ◽  
pp. 533-540 ◽  
Author(s):  
John Knight ◽  
Allison Knight ◽  
Gabor Ungvari

Applications of molecular genetic techniques to schizophrenia have shown great initial promise but have then proved disappointing. In order to maximise chances of elucidating the genetic mechanism underlying schizophrenia, diverse strategies and diverse perspectives must be adopted. Most studies begin with the premise that, although schizophrenia may be a heterogeneous collection of diseases, some subtypes will be primarily single-gene disorders. We are concerned that this single-gene hypothesis may be incorrect. Schizophrenia research may benefit from application of knowledge from other disciplines and from other diseases which, in terms of epidemiology and apparent genetic mechanisms, bear some resemblance to schizophrenia.

1992 ◽  
Vol 3 (4) ◽  
pp. S2
Author(s):  
C R Dudley ◽  
L A Giuffra ◽  
S T Reeders

Genetic factors play an important role in the pathophysiology of human essential hypertension. The remarkable success of molecular genetic techniques in identifying the basis for single gene disorders at the DNA level has encouraged investigators to apply similar techniques in an attempt to identify blood pressure genes. In contrast to single gene disorders, however, the study of blood pressure is complicated by its quantitative, complex, heterogeneous, and polygenic nature. This article examines current methods and strategies for identifying genetic determinants in human hypertension. The availability of highly polymorphic markers, the advances in quantitative trait analysis, and the mapping of blood pressure-determining genes in a polygenic rat model of hypertension suggest that molecular genetic research in human hypertension has come of age.


Author(s):  
Amber M. Jarnecke ◽  
Susan C. South

Behavior and molecular genetics informs knowledge of the etiology, structure, and development of the Five Factor Model (FFM) of personality. Behavior genetics uses quantitative modeling to parse the relative influence of nature and nurture on phenotypes that vary within the population. Behavior genetics research on the FFM has demonstrated that each domain has a heritability (proportion of variation due to genetic influences) of 40–50%. Molecular genetic methods attempt to identify specific genetic mechanisms associated with personality variation. To date, findings from molecular genetics are tentative, with significant results failing to replicate and accounting for only a small percentage of the variance. However, newer techniques hold promise for finding the “missing heritability” of FFM and related personality domains. This chapter presents an overview of commonly used behavior and molecular genetic techniques, reviews the work that has been done on the FFM domains and facets, and offers a perspective for future directions.


Author(s):  
David Collier ◽  
Tao Li

The previous chapter has focused on methods for identifying familial clustering of disorders or traits, and on methods for distinguishing between shared genetic and environmental influences. The primary objective for this chapter is to outline techniques for identifying specific genes responsible for an observed phenotype. The theoretical basis of complex and quantitative traits was established many decades ago. However practical methods for the efficient molecular analysis of the human genome have only recently emerged. Alongside these developments, the molecular genetic analysis of human disorders has moved at a rapid pace. Molecular genetics has focused on single gene disorders with great success, whereas for complex psychiatric disorders, few genetic risk factors have been identified. However the tools used by the complex disorder geneticist have evolved rapidly in the last few years and better strategies and statistical methods continue to appear. This chapter outlines some established and novel approaches to the analysis of the genetics of complex human disorders. A basic understanding of genetical statistics will be useful.


1996 ◽  
Vol 28 (4) ◽  
pp. 490-507 ◽  
Author(s):  
Jo Daniels ◽  
Peter McGuffin ◽  
Mike Owen

An obvious requirement before embarking on molecular genetic investigation of a trait is prior evidence from ‘classic’ genetic studies that there is indeed a genetic component. Many behavioural traits are familial and these range from comparatively uncommon single gene disorders such as Huntington's disease which has a typical mendelian dominant pattern of transmission, to much commoner characteristics such as career choice or religious denomination which, it might be assumed, are heavily influenced by cultural factors. In between, there is a wide range of attributes including personality type, cognitive ability and liability to common disorders such as depression, that show a tendency to run in families, and which could conceivably be explained by shared genes, shared environment or a combination of the two.


Author(s):  
Muhsin Elmas ◽  
Umit Can Yildirim

AbstractMicrocephaly is a dysmorphic feature characterized by small head size more than two standard deviations below the mean for age, sex, and ethnicity. There are several etiological factors ranging from environmental toxins or infections to genetic disorders. We report clinical, radiological, and molecular genetic investigations of patients with microcephaly from a single center over 5-year period. There were 92 patients with a genetic diagnosis. Based on their genetic diagnosis, we grouped patients into three categories: (1) microcephaly with copy number variations (CNVs), (2) microcephaly with single gene disorders, and (3) microcephaly with aneuploidies. The most common category was aneuploidy in 59% of the patients, followed by single gene disorders in 23% of the patients and CNVs in 18% of the patients. We think that history and physical examination guide physicians to choose the most appropriate genetic testing to identify underlying diagnosis.


Author(s):  
Kenneth Ward

Abstract There are many well-accepted indications for cytogenetic testing indicated by the detection of a fetal abnormality on prenatal ultrasound. Over the last decade, the molecular bases for thousands of single gene disorders have been elucidated, molecular cytogenetic tests have been created, and molecular assays for most infectious agents have been developed—potentially improving our ability to make accurate prenatal diagnoses. This review describes the role of molecular diagnostics in detecting chromosomal microdeletions and microduplications, single gene disorders, and infectious diseases. We show that molecular genetic testing is now frequently indicated in the evaluation of abnormal ultrasound findings. A significant educational effort will be necessary to incorporate new molecular knowledge into obstetric ultrasound practice.


2019 ◽  
Vol 23 (3) ◽  
pp. 343-354
Author(s):  
A. V. Makarova ◽  
O. V. Mitrofanova ◽  
A. B. Vakhrameev ◽  
N. V. Dementeva

The color of plumage in birds is an important feature, often determining descent to a particular species or breed. It serves as a key factor in the interaction of birds with each other due to their well-developed visual perception of the surrounding world. In poultry including chickens, the color of the plumage can be treated as a genetic marker, useful for identifying breeds, populations and breeding groups with their specific traits. The origin of diverse color plumage is the result of two interrelated physical processes, chemical and optical, due to which pigment and structural colors in the color are formed. The pigment melanin, which is presented in two forms, eumelanin and pheomelanin, is widely spread in birds. The basis for the formation of melanin is the aromatic amino acid tyrosine. The process of melano-genesis involves many loci, part of the complex expression of plumage color genes. In birds, the solid black color locus encodes the melanocortin 1 receptor (MC1R), mutations in which lead to a change in receptor activation and form different variants of the E locus. Using the GWAS analysis, possible genes affecting the formation of color in chickens were detected. The biosynthesis and types of melanin are affected by the activity of the enzyme tyrosine, and mutations in the tyrosinase gene (TYR) cause albinism in different species. The formation mechanism of brown, silver, gold, lavender and a number of other shades is determined by the influence on the work of the MC1R genes and TYR specific modifier genes. Thus, locus I currently associated with the PMEL17 gene inhibits the expression of eumelanin, and the MLPH gene affects tyrosinase function. Research on the mechanisms of formation of the secondary coloring of plumage in chickens is being actively conducted nowadays. The formation of a marble feather pattern is associated with the mutation of the endothelin B2 receptor (EDNRB2), in the coding part of the gene of which a polymorphism is found associated with the mo locus. The molecular base that causes the feather banding (locus B and autosomal recessive banding) is identified. Today, only some genes that determine the color of the plumage of chickens are studied and described. Different genes can produce similar plumage patterns, and different phenotypes can be determined by the polymorphism of a single gene. Using molecular methods, you can more accurately identify these differences. This overview shows the nature of melanin coloration in birds using the example of chickens of various breeds and also attempts to systematize knowledge about the molecular-genetic mechanisms of the appearance of various types of coloration.


2013 ◽  
Vol 19 (36) ◽  
pp. 6480-6490 ◽  
Author(s):  
Marco Pignatelli ◽  
Marco Feligioni ◽  
Sonia Piccinin ◽  
Gemma Molinaro ◽  
Ferdinando Nicoletti ◽  
...  

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