Zygosity: Implications for Genetics Research and Health Care

Kerem Dirican^*
*Correspondence: Kerem Dirican, Department of Obstetrics and Gynecology, University of Akdeniz, Antalya, Turkey, Email:

Introduction

Zygosity refers to the genetic makeup of an individual with respect to a particular gene or set of genes. Specifically, it describes whether a pair of alleles at a specific locus are identical (homozygous) or different (heterozygous) in an individual's genetic material. Zygosity plays a crucial role in genetics and has implications for an individual's traits, disease risk and familial relationships. In humans, zygosity is typically determined through analysis of DNA samples obtained through blood, saliva, or other bodily fluids. The analysis involves comparing the nucleotide sequence of the alleles at a given locus between the two chromosomes of an individual. If the alleles on both chromosomes are the same, the individual is homozygous for that locus. If the alleles differ, the individual is heterozygous for that locus [1].

Description

The concept of zygosity is important in a number of different areas of genetics research. For example, it is relevant to the study of inherited diseases, as the risk of developing certain genetic disorders is dependent on whether an individual is homozygous or heterozygous for a particular mutation. In some cases, individuals who are homozygous for a deleterious mutation may be more likely to develop a disease, while those who are heterozygous may be carriers of the mutation without showing any symptoms. Zygosity is also relevant to the study of complex traits, such as height or intelligence, which are influenced by multiple genes. In these cases, the effect of a particular allele on the trait may depend on whether an individual is homozygous or heterozygous for that allele. For example, if a particular allele contributes to greater height, an individual who is homozygous for that allele may be taller than someone who is heterozygous [2].

In addition, zygosity is important in the context of genetic testing and counseling. For example, if one member of a family is diagnosed with a genetic disorder, it may be important to determine the zygosity of other family members to assess their risk of developing the disorder. One common way to determine zygosity is through the use of genetic markers, which are specific regions of DNA that vary between individuals. By analyzing the presence or absence of these markers, it is possible to determine whether an individual is homozygous or heterozygous for a particular gene or set of genes. There are several different types of genetic markers that can be used to determine zygosity, including single nucleotide polymorphisms (SNPs), short tandem repeats (STRs) and variable number tandem repeats (VNTRs). SNPs are single base pair differences in DNA sequence that can be used to differentiate between alleles. STRs and VNTRs are regions of DNA that contain repeating sequences of nucleotides, which can vary in length between individuals and can be used to determine zygosity. In addition to genetic markers, zygosity can also be determined through other methods, such as physical examination or blood typing. For example, blood typing can be used to determine zygosity for the ABO blood group system, which is controlled by a single gene with three alleles: A, B and O. An individual who is homozygous for the A allele will have type A blood, while an individual who is heterozygous for the A and B alleles will have type AB blood [3-5].

Conclusion

Overall, zygosity plays a critical role in genetics research and has important implications for disease risk, complex traits and familial relationships. By determining an individual's zygosity

Acknowledgement

None.

Conflict of Interest

There are no conflicts of interest by author.

References

1. Murphy, K. C. and Michael John Owen. "Velo-cardio-facial syndrome: A model for understanding the genetics and pathogenesis of schizophrenia." Br J Psychiatry 179 (2001): 397-402.

Google Scholar, Crossref, Indexed at

2. Shi, Jianxin, Douglas F. Levinson, Jubao Duan and Alan R. Sanders, et al. "Common variants on chromosome 6p22. 1 are associated with schizophrenia." Nature 460 (2009): 753-757.

Google Scholar, Crossref, Indexed at

3. Anna K. Kähler. "Genome-wide association study identifies five new schizophrenia loci." Nat Genet 43 (2011): 969-976.

Google Scholar, Crossref, Indexed at

4. Ripke, Stephan, Colm O'dushlaine, Kimberly Chambert and Jennifer L. Moran, et al. "Genome-wide association analysis identifies 13 new risk loci for schizophrenia." Nat Genet 45 (2013): 1150-1159.

Google Scholar, Crossref, Indexed at

5. Danaei, Goodarz, Saman Fahimi, Yuan Lu and Bin Zhou, et al. "Effects of diabetes definition on global surveillance of diabetes prevalence and diagnosis: A pooled analysis of 96 population-based studies with 331 288 participants." Lancet Diabetes Endocrinol 3 (2015): 624-637.

Google Scholar, Crossref, Indexed at