Patterns of Genetic Inheritance

1999 ◽  
Vol 18 (1) ◽  
pp. 7-10 ◽  
Author(s):  
Barbara Reyna ◽  
Rita Pickler

Neonatal nurses need to understand the basic patterns of genetic transmission. This article, the first in a series, provides an overview of Mendel’s laws and discusses five types of transmission: single gene inheritance, chromosomal inheritance, multifactorial inheritance, cytoplasmic inheritance, and somatic cell mutations.

1971 ◽  
Vol 118 (543) ◽  
pp. 211-214 ◽  
Author(s):  
Ming-tso Tsuang

There have been many studies concerned with families of schizophrenics. Both environmental and genetic factors are claimed to be responsible in the development of this condition. Nowadays, there is no absolute hereditarian or environmentalist. A number of studies have shown that genetic factors are present in schizophrenia. The issue of whether this condition is caused by a single major gene with diminished penetrance or by polygenes has not yet been satisfactorily proven. Although this issue is difficult to resolve, it is important to distinguish between these two possibilities of genetic inheritance. In the case of single gene inheritance, biochemical investigation would be fruitful, but not in the case of polygenic inheritance manifesting clinical abnormalities once it exceeded a given margin of tolerance.


2020 ◽  
Vol 11 (SPL2) ◽  
pp. 251-259
Author(s):  
Yogalakshmi E ◽  
Hemamalini NV ◽  
Chitra S

Hemoglobinopathies are single-gene disorders with autosomal recessive inheritance constituting an important cause of morbidity and mortality, imposing a heavy psychological and economical burden on the affected families. The prevalence of Thalassemia and Haemoglobinopathies had been low previously, but now it is found increasing at a rapid pace, because of the migrant population. Since Our Hospital is located in a unique demographic location, in the outskirts of Chennai, the capital city of Tamil Nadu state, populated by multi-ethnic and multi-linguistic residents of varying socio-economic status, we decided to instigate a random sampling study to unearth the presence of Haemoglobinopathies and Thalassemia syndromes among the patients attending our hospital, for various ailments. Hence a prospective study is conducted to screen the variants of haemoglobin by using the High-Performance Liquid Chromatography (HPLC) technology in Saveetha Medical College Hospital, Chennai, for a period of 18 months from May 2018 to October 2019. Out of 305 patients screened, 119 patients were identified to have Thalassemia traits/hemoglobinopathy. Among the 119 positive patients identified, most of them were unaware of the fact, that they are having a blood related genetic disorder, which could be passed on to their next generation. The major barrier in the implementation of the carrier screening programme, is the lack of knowledge about the genetic transmission of these diseases and the advantages of the carrier screening are preventing the birth of a genetically defective child. Creating awareness about the carrier screening among the reproductive population, becomes the key factor in the reduction of the prevalence of Thalassemia and Haemoglobinopathies. This study discusses an Analytical approach for Screening Thalassemia and Haemoglobinopathies and also insists on a flowchart depicting the action plans to be taken to reduce the prevalence of Thalassemia and Haemoglobinopathies.


2019 ◽  
Vol 42 ◽  
Author(s):  
Marco Del Giudice

Abstract The argument against innatism at the heart of Cognitive Gadgets is provocative but premature, and is vitiated by dichotomous thinking, interpretive double standards, and evidence cherry-picking. I illustrate my criticism by addressing the heritability of imitation and mindreading, the relevance of twin studies, and the meaning of cross-cultural differences in theory of mind development. Reaching an integrative understanding of genetic inheritance, plasticity, and learning is a formidable task that demands a more nuanced evolutionary approach.


2020 ◽  
Vol 477 (16) ◽  
pp. 3091-3104 ◽  
Author(s):  
Luciana E. Giono ◽  
Alberto R. Kornblihtt

Gene expression is an intricately regulated process that is at the basis of cell differentiation, the maintenance of cell identity and the cellular responses to environmental changes. Alternative splicing, the process by which multiple functionally distinct transcripts are generated from a single gene, is one of the main mechanisms that contribute to expand the coding capacity of genomes and help explain the level of complexity achieved by higher organisms. Eukaryotic transcription is subject to multiple layers of regulation both intrinsic — such as promoter structure — and dynamic, allowing the cell to respond to internal and external signals. Similarly, alternative splicing choices are affected by all of these aspects, mainly through the regulation of transcription elongation, making it a regulatory knob on a par with the regulation of gene expression levels. This review aims to recapitulate some of the history and stepping-stones that led to the paradigms held today about transcription and splicing regulation, with major focus on transcription elongation and its effect on alternative splicing.


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