Methods for studying genetic principles in humans include:

1. Pedigree Analysis served as an Important Diagnostic Tool for Calculating the Risk Factor in Infertile Men of Indian Population in a study conducted by the Jawaharlal Nehru Cancer Hospital and Research Centre, Bhopal (2020). The study found that the prevalence of infertility was found to be significantly high in families having a history of infertility.

2. Pedigree analysis in patients with familial epilepsy and intellectual disability reveals that genetic inheritance was definitely determined in 85% of the patients and most of them displayed autosomal recessive inheritance.

1. Researchers at The Institute of Cancer Research, London using Twin study confirms childhood leukemia starts in the womb and could help guide screening when only one twin is affected.

1. Leonard Heston's 1966 study: Children of schizophrenic parents are just as likely to become schizophrenic even in different homes. This indicates a strong biological basis of disease.

1. Cytogenetic analysis plays a critical role in the diagnosis, classification, prognosis, and management of acute myeloid leukemia (AML). AML risk factors are determined by identifying the underlying cytogenetic abnormalities, including chromosomal duplications, deletions, or substitutions and also under- or over-expression of some proteins.

2. The development of sophisticated techniques known as 'Molecular Cytogenetics', such as Fluorescent In Situ Hybridization (FISH), makes it possible to carry out more indepth cytogenetic studies as it allows the localisation of a specific DNA sequence on fixed preparations of chromosomes, interphase nuclei and tissue sections, obtained from any type of biological material (blood, biopsies, amniotic fluid, gametes), whether fresh, cryopreserved or paraffin-embedded.

1. DNA-RNA probe: A team of researchers have developed a Novel assay based on hybrid DNA-RNA probe for detecting food contaminated with salmonella.

Study by: Laura.S.Kremer et al in 2017

Objective: To diagnose mendelian disorders using RNA sequencing.

Method:

Result: Molecular diagnosis of 10% of undiagnosed mitochondriopathy patients was made possible.

Study by: Muhammad Tariq Masood Khan et al., in 2019

Objective: To establish Genotype-Phenotype Heterogeneity in Haemophilia

Methodology: Observable characteristic which is expressed by an underlying genotype interacting with the environment in hemophilia patients is elucidated.

Result:

Study by: Hanan E.Shamsheldin et al., in 2021

Objective: To showcase the utility of molecular autopsy in defining lethal variants in humans.

Methodology: A cohort of 481 cases in whom the cause of premature death was investigated using DNA from the index or relatives (molecular autopsy by proxy).

Result:

Conclusions: Molecular autopsy, broadly defined, proved to be a helpful clinical approach that provides unique insights into lethal variants and the clinical annotation of the human genome.

Note: Molecular autopsy refers to DNA-based identification of the cause of death.

Study by: Cristene Dieter et al., in 2022

Objective: To identify genetic polymorphisms that are likely to contribute to COVID-19 pathogenesis.

Methodology: A comprehensive and updated systematic review of the literature on the subject followed by meta-analyses of those polymorphisms analyzed in three or more studies.

Result: Polymorphisms in the ApoE, ACE1, TMPRSS2, CCR5, and HLA loci appear to be involved in the susceptibility to and/or severity of COVID-19.

Objective: The objective of this study is to evaluate the allelic and genotypic frequency of different qualitative traits of men and women in Punjab, Pakistan.

Method: A total of 909 individuals were recruited for this study and assessed for many traits.

Findings:

Result: In the whole population, the ear lobe is non-significant but other traits are significant. This study indicated that the alleles for the ear lobe are in equilibrium in the population, based on a Mendelian ratio. Hence, only the ear lobe follows the Mendelian ratio in the population of Punjab, Pakistan.

Example:

A recent study by Samarth Mathur and Andrew Dewoody in 2021 found that although genetic load has potential in large populations, in small populations the realized genetic load is elevated because of inbreeding coupled with a higher frequency of slightly deleterious mutations that are manifested in homozygotes.

Study by: Santhosh Kumar Sharma et al., in 2021

Objective: The aim of the study was to estimate the prevalence and examine the determinants of consanguineous marriage types in India.

Method: Data for 456,646 ever-married women aged 15-49 years were analyzed from the National Family Health Survey (NFHS)-4 conducted in 2015-16.

Result: The overall prevalence of consanguineous marriage was 9.9%;

Conclusion: Close scrutiny of the trends in the results (odds ratios) revealed no clear relationship between socioeconomic condition and consanguineous marriage. The study results suggest that religion and north-south regional dichotomy in culture largely determine consanguineous marriage rather than socioeconomic condition in India.

Chromosomal aberrations can be classified into:

Sex chromosomal aberrations include:

Autosomal aberrations include:

The Preimplantation Genetic Screening (PGS or PGT-A) is a test offered by diagnostic companies, where chromosomal material of an in vitro fertilized (IVF) embryo is tested for numerical chromosomal abnormalities before it is transferred so that only those with a normal number are prioritized for transfer.

A normal embryo contains 46 chromosomes - any less or more present problems. The test checks for trisomies (additional chromosomes) and monosomies (absence of a member from a pair of chromosomes) that increase the risk of implantation failure and miscarriage, including for conditions like:

DNA analysis helps in understanding ancestry of people and isotope analysis sheds light on food habits. For instance, a recent DNA analysis suggests 160-year-old human skeletons found in Punjab are of Ganga plain martyrs.

The research paper presented recently at the European Society of Human Genetics annual conference.

Objective: To determine the impact of genetic counseling for patients with colorectal cancer.

Method: The researchers recruited 82 individuals from a Romanian oncology clinic who were at risk for various types of familial colorectal cancer, and randomized them to either a standard care group, or standard care plus genetic counseling group. The participants' average age was 44.8 years, and 52.4% were female.

Results: The results indicated a significant effect on empowerment scores in the group that received genetic counseling as compared to the control group. Further analysis showed that the counseling group showed significant improvements in patients' feelings of improved knowledge and empowerment, and reduced feelings of anxiety, depression, and emotional distress.

The Ministry of Culture is in the process of acquiring an array of DNA profiling kits and associated state-of-the-art machines for establishing the genetic history and "trace the purity of races in India".

Study by: Amit Agarwal et al., in 2014

Objective: To provide data on the ABO and Rh(D) blood group distribution and gene frequency across India.

Method:

Result:

In heat stress, cooling mechanisms include increased skin blood flow and sweating and at the same time circulatory measures are initiated to maintain central blood pressure, e.g., by an increase in plasma volume and cardiac output (Taylor, 2014).

In cold stress, heat loss is prevented by peripheral vasoconstriction and heat production by shivering and uncoupled mitochondrial (Manou-Stathopoulou et al., 2015).

Study by: Jianseng Wu et al., in 2021

Objective: To investigate human physiological responses of exposure to extremely cold environments.

Method:

Merrill Singer's Anthropology of Infectious Disease (Book published in 2015) argues that pathogens are intertwined with human social worlds. Through a variety of case studies drawn from around the world, from HIV to malaria and from Lyme disease to tuberculosis, the book emphasizes a biosocial or biocultural approach to the understanding of infectious disease.

In contrast to a strictly biomedical framework, the core argument is that infectious diseases cannot be understood through biology alone but rather must be considered within the context of the cultural and social worlds they inhabit.

Stages of growth include:

Factors affecting growth and development include genetic, environmental, biochemical, nutritional, cultural and socio-economic factors.

Aging and senescence theories and observations focus on biological and chronological longevity.

Human physique and somatotypes are also important concepts in growth studies.