scholarly journals Identifying genetic determinants in human essential hypertension.

1992 ◽  
Vol 3 (4) ◽  
pp. S2
Author(s):  
C R Dudley ◽  
L A Giuffra ◽  
S T Reeders
Keyword(s):  
Blood Pressure ◽  
Essential Hypertension ◽  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Genetic Determinants ◽  
Human Hypertension ◽  
Quantitative Trait Analysis ◽  
Single Gene Disorders ◽  
Genetic Techniques

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.

Molecular genetic research on IQ: can it be done? Should it be done?

1996 ◽  
Vol 28 (4) ◽  
pp. 490-507 ◽  
Author(s):  
Jo Daniels ◽  
Peter McGuffin ◽  
Mike Owen
Keyword(s):  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Cultural Factors ◽  
Shared Environment ◽  
Religious Denomination ◽  
Genetic Investigation ◽  
Genetic Studies ◽  
Single Gene Disorders ◽  
Wide Range

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.

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
Keyword(s):  
Genetic Predisposition ◽  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Mechanism ◽  
Single Gene Disorders ◽  
Genetic Mechanisms ◽  
Genetic Techniques

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.

scholarly journals Mapping blood pressure loci in (A/J × B6)F2 mice

2003 ◽  
Vol 15 (3) ◽  
pp. 236-242 ◽  
Author(s):  
David D. L. Woo ◽  
Ira Kurtz
Keyword(s):  
Blood Pressure ◽  
Essential Hypertension ◽  
Environmental Variables ◽  
Chromosome 17 ◽  
Whole Genome ◽  
Lod Score ◽  
Human Hypertension ◽  
Complex Genetics ◽  
The Common ◽  
Human Chromosome 17

Although the genetics of rare, monogenic, forms of human hypertension are fairly well defined, the genetics of the common polygenic form of human essential hypertension is only emerging. With the ability to control environmental variables, animal models have provided valuable tools with which to study blood pressure (BP) homeostasis. We have now studied BP genetics in a model consisting of 1,521 F2 mice from a series of (A/J × B6) intercrosses kept under standardized conditions. Using whole genome quantitative trait loci (QTL) mapping, we have identified four novel significant BP loci. These included Abbp1 on mouse chromosome MMU1 [maximum LOD score (MLS) at ∼35 cM = 6.8], Abbp2 on MMU4 (MLS at ∼25 cM = 9.8), Abbp3 on MMU7 (MLS at ∼25 cM = 5.4), and Abbp4 on MMU11 (MLS at ∼58 cM = 6.3). Compared with A/J homozygotes, homozygosity for the B6 alleles of Abbp1, Abbp2, or Abbp4 is independently associated with a 7–12 mmHg increase in BP. In contrast Abbp3 interacts epistatically with a locus on MMU17 (near D17Mit180) to modulate BPs in female (A/J × B6)F2 mice. Interestingly, Abbp4 on MMU11 is homologous to a major confirmed BP locus, BP1, on rat chromosome 10 and to a major confirmed BP locus, HYT1, on human chromosome 17. Defining the molecular differences between the A/J and the B6 alleles at these novel loci with major influences on the BP phenotype will contribute to our understanding of the complex genetics of BP control.

Genetic epidemiology 2: molecular genetics

2003 ◽  
pp. 335-356
Author(s):  
David Collier ◽  
Tao Li
Keyword(s):  
Molecular Genetics ◽  
Single Gene ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Primary Objective ◽  
Great Success ◽  
Complex Disorder ◽  
Single Gene Disorders ◽  
Human Disorders ◽  
Rapid Pace

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.

Twin Studies of Political Behavior: Untenable Assumptions?

2008 ◽  
Vol 6 (4) ◽  
pp. 785-791 ◽  
Author(s):  
Jon Beckwith ◽  
Corey A. Morris
Keyword(s):  
Molecular Genetic ◽  
Genetic Research ◽  
Twin Studies ◽  
First Century ◽  
Behavioral Traits ◽  
Political Ideologies ◽  
Equal Environments Assumption ◽  
Twin Method ◽  
Genetic Techniques ◽  
Equal Environments

Using the “classical twin method,” political scientists John Alford, Carolyn Funk, and John Hibbing conclude that political ideologies are significantly influenced by genetics, an assertion that has garnered considerable media attention. Researchers have long used human twins in attempts to assess the degree of genetic influence on various behavioral traits. Today, this methodology has been largely replaced in favor of contemporary molecular genetic techniques, and thus heritability studies have seen a diminishing role in behavioral genetic research of the twenty-first century. One important reason the twin method has been superseded is that it depends upon several questionable assumptions, the most significant of which is known as the equal environments assumption. Alford, Funk, and Hibbing argue that this crucial assumption, and thus their conclusion, holds up under empirical scrutiny. They point to several studies in support of this assumption. Here, we review the evidence presented and conclude that these attempts to test the equal environments assumption are weak, suffering significant methodological and inherent design flaws. Furthermore, much of the empirical evidence provided by these studies actually argues that, contrary to the interpretation, trait-relevant equal environments assumptions have been violated. We conclude that the equal environments assumption remains untenable, and as such, twin studies are an insufficient method for drawing meaningful conclusions regarding complex human behavior.

Genetic and Clinical Approach To Microcephaly: A 5-Year Single Center Experience

2020 ◽  
Author(s):  
Muhsin Elmas ◽  
Umit Can Yildirim
Keyword(s):  
Genetic Disorders ◽  
Single Gene ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Copy Number Variations ◽  
Clinical Approach ◽  
Single Center ◽  
Single Center Experience ◽  
Common Category ◽  
Single Gene Disorders

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.

scholarly journals Sonographic Indications for Molecular Genetic Testing

2007 ◽  
Vol 1 (4) ◽  
pp. 7-17
Author(s):  
Kenneth Ward
Keyword(s):  
Genetic Testing ◽  
Single Gene ◽  
Molecular Genetic ◽  
Molecular Genetic Testing ◽  
Fetal Abnormality ◽  
Educational Effort ◽  
Single Gene Disorders ◽  
Ultrasound Findings ◽  
Cytogenetic Testing ◽  
Molecular Bases

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.

Ethical Issues in Genetic Testing and Screening in Children

2016 ◽  
Author(s):  
Alan R. Fleischman
Keyword(s):  
Genetic Testing ◽  
Ethical Issues ◽  
Single Gene ◽  
Genetic Research ◽  
Clinical Tool ◽  
Individual Gene ◽  
Ethical Concerns ◽  
Single Gene Disorders ◽  
Research Findings ◽  
The Many

This chapter describes genetic testing and screening in children and presents the many ethical issues associated with these practices. It examines the unique ethical concerns in genetic testing in children with particular emphasis on screening for adult-onset diseases, newborn screening, and whole exome or genome testing. Whole genome testing is now available as a clinical tool for patients with undefined disorders, and has also been offered directly to the public as a way of exploring risk of future disease. In the first decades of the 21st century the ability to examine single-gene disorders has exploded as technology has allowed for more rapid and less expensive analysis of individual gene loci. The chapter also deals with ethical concerns in genetic research, biobanking, and revealing research findings to patients and families.

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