Genetics plays an important role in the field of medical sciences. There arises a genetic base to a disease, the development, reproduction, and other processes in the body. The gene or a blueprint of life occurs in every cell and is an important inheriting factor. Hence, it is important to understand genes and their role in various diseases, cancers, developmental stages, and interactions with various components. Some of the genes encode for proteins. The genes get passed on from one generation to the next generation. They also carry any minute changes or mutations. The diverse population is a sign of variation. Due to recent advances in health research, more and more diseases showed a genetic base. The science of genetics helps in detecting many diseases. It helps in their treatment or prevention. When you try to understand the molecular intricacies of the genetic material, you will be amazed to see an entirely different world. Thousands of reactions keep occurring at a molecular level.
DNA, the blueprint of life consists of nucleotide base pairs attached to the phosphodiester bonds. Small units of DNA form genes and exhibit specific functions. Various disorders arise due to gene mutations. Hence, they are known as genetic disorders. Detection of genetic disorders involves modern genetic diagnostic techniques. There involves the tremendous importance of genetics in medical sciences. To understand its role in health and disease, we must know the basic concept of genetics.
The review covers the following topics in detail:
1. What are genes and various branches of genetics?
2. Chromosomes and disorders associated with the genes
3. Disorders inherited due to faulty genes
4. The role of gene mutations in biochemical disorders
5. Detection of genetic disorders
6. Genetic counseling
7. Gene Cloning and DNA analysis
8. Gene therapy
Image 1: Medical genetics
Various branches of genetics:
Human genetics involves several branches such as cytogenetics, molecular genetics, biochemical genetics, cancer genetics, Immunogenetics, and developmental genetics. Cytogenetics is the study of chromosomes and various disorders associated with the same. A chromosome is a specialized structure consisting of DNA-protein complex packed in a condensed manner. Cytogenetic techniques help in studying these structures. Molecular genetics involves the study of genes at the molecular levels such as single base pair changes, mutations, and other studies. Biochemical genetics involves genes controlling the enzyme production. Cancer genetics involves studying cancer genes and mutations associated with cell cycle control. Different antigen-antibody interactions studies involve immunogenetics. Developmental genetics helps to study the genetic control of the development. Hence there are many such branches of genetics. The field of genetic science is very vast. Half the rate of first trimester abortions involves chromosomal abnormalities. Congenital malformations, childhood blindness, deafness, and mental retardation mostly occur due to gene mutations.
Chromosomes and disorders associated with the same:
Every cell in the human body constitutes chromosomes. The chromosome complement in humans consists of autosomes and sex chromosomes. There are 22 pairs of autosomes and a pair of sex chromosomes. They are known as X and Y chromosomes respectively. A normal male has 22 pairs of autosomes, an X, and a Y chromosome. A normal female has 22 pairs of autosomes and two X chromosomes. Karyotyping involves arranging the chromosomes as per the groups resulting in a photomicrograph. This photomicrograph or a karyotype consists of autosomes and sex chromosomes arranged in groups. Structural and numerical abnormalities in the chromosomes result in genetic disorders. They are known as chromosomal anomalies or chromosomal abnormalities.
Disorders due to an abnormal number of chromosomes are known as numerical anomalies. They arise due to non-disjunction of chromosomes. Monosomies (one chromosome less), trisomies (one chromosome extra), and many other conditions consist of chromosomal anomalies. Down’s syndrome is an example of trisomy. It occurs due to trisomy of the 21st chromosome. Disorders associated with the structural abnormalities of chromosomes are known as structural anomalies. Deletions, duplications, inversions, and translocations arise due to the structural anomalies of the chromosomes. They also result in conditions such as mosaicism.
Disorders inherited due to faulty genes:
Monogenic or single gene disorders are the genetic disorders arising due to the inheritance of a mutated gene. Two main types of inheritance include autosomal inheritance and sex-linked inheritance. Autosomal inheritance involves autosome related disorders or traits. Inheritance of the traits due to the expression of genes present on the sex chromosomes is known as a sex-linked inheritance. Autosomal dominant inheritance manifests the trait even if the mutant gene occurs in a single dose. For example, Huntington’s disease arises due to abnormal CAG nucleotide repeat. Autosomal recessive inheritance manifests the trait even if the gene is present in the double dose (homozygous). An example includes sickle-cell anemia. Sex-linked inheritance is either X-linked or Y-linked. The X-linked inheritance occurs in a dominant or a recessive form. Very few cases report Y-linked inheritance.
Polygenic or multifactorial inheritance depends on many genes. The traits are known as quantitative traits and depend on many factors. Abnormalities in mitochondrial DNA (mtDNA) occur due to mitochondrial inheritance. The genes do not behave as dominant or recessive in polygenic inheritance. They exhibit an additive effect on the trait.
Biochemical genetics:
This area of genetics deals with the genetic control of the metabolic pathways. According to the one gene-one enzyme hypothesis proposed by Beadle and Tatum, metabolic processes occur in various steps controlled by enzymes. Each enzyme gets coded by one gene. Inborn error of metabolism arises due to enzyme unavailability or insufficiency occurring as a result of related gene mutations. The inborn error of metabolism follows Mendelian inheritance pattern. PKU, a classic example of the inborn error of metabolism, arises due to the deficiency of phenylalanine hydroxylase.
Image 2: The role of genetics in medicine
Detection of genetic disorders:
Cytogenetic and molecular genetic studies or tests detect various anomalies. The prenatal diagnosis helps to detect abnormalities in the fetus before birth. Examples of prenatal tests include Amniocentesis, chorionic villus sampling, fetoscopy, ultrasonography, maternal serum screening, and fetal blood sampling. Non-invasive prenatal tests also help in detecting the fetal DNA through maternal serum testing. Karyotyping helps to detect chromosomal abnormalities. FISH and other hybridization techniques detect minute changes in the DNA. SNP genotyping involves PCR, agarose gel electrophoresis, and gel documentation systems.
Genetic counseling:
It is a specialized session with a genetic counselor. The genetic counselor is an expert in genetics and a trained professional who guides the couples and patients suspected with the genetic disorders. Genetic counseling helps in the risk assessment of hereditary diseases, repeated abortions, and stillbirth cases. It also helps in reducing the risk of having a baby with the genetic and other ailments including the inborn errors of metabolism.
Gene cloning and DNA analysis:
Gene cloning involves cloning the gene of interest for incorporation into the desired vector. It has a wide range of applications in recombinant DNA technology. It helps in expressing the desired products such as proteins, vitamins, and other molecules. Peptide vaccines and hormones get developed using gene cloning. DNA analysis using techniques such as DNA fingerprinting help to solve parental issues. Analyzing DNA and genotyping techniques help in detecting gene mutations.
Gene therapy:
It helps in replacing the gene that has lost its function. The first step involves defective gene identification and cloning the normal gene in place of the defective gene. The normal gene insertion includes a vector. The first gene therapy gained success in case of a child having ADA deficiency associated with severe combined immunodeficiency syndrome (SCID).
References:
[1] Emery’s elements of Medical Genetics, Peter D. Turnpenny
[2] Chromosome Abnormalities and Genetic Counseling, R.J. MKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer
[3] Medical Genetics, G. Bradley Schaefer, James N. Thompson
[3] Medical Genetics, G. Bradley Schaefer, James N. Thompson
Copyright, 2018 All Rights Reserved
.png)
