**Dr. Osman Erol**

**1**

**Chapter 1**

**Abstract**

VNTR, CNV, STR

**1. Introduction**

Genetic Polymorphisms

one for allele recognition and another for detection.

*Dhafer A.F. Al-Koofee and Shaden M.H. Mubarak*

It is amazing to know that around 99.9% of the individuals genome among persons is alike, and only 0.1% of it differs in chromosome. This variance is accountable for the diversity in phenotypes and receptiveness of them to environmental effects. DNA variants are happening in numerous formulas. Mutations might be definite as order variants which happen in less than 1% of the populace, whereas the extra prevalent variant is identified as polymorphisms. More than 1% of the greatest public hereditary variants are known as single nucleotide polymorphisms (SNPs). In human genome, SNPs considered as plentiful figure of genetic variation, and their importance in contribution to many disease, drug efficacy, and side effects in addition to may represent a prophylaxis. SNPs represent a specific location at which more than one nucleotide is established and only two alleles at a SNP locus. More than 100 million SNPs have been recognized in human, in average each 300 nucleotide on usual. The gene which has more than one allele is a normal result of SNP. SNPs are not restricted to coding sequence, but may be associated with noncoding region. Many techniques are used to analyze SNPs and involve two phases,

**Keywords:** SNP, allele frequency, point mutation, VNP, chromosome, gender, gene,

Genetics terms returns to origin from Greek genetikos meaning "genitive," which in turn derives from genesis meaning "origin" [1, 2]. Genetics in general is a branch of biology related to survey of genes, genetic variation, and even heredity in living systems [3–5]. The study of inheritance pattern that influences genes on human nature and occurs in human beings is called human genetics. Human genetics represents an original aspect that encompasses a variety of overlapping fields like the structure of gene and organization; the study of mutation detection; genetic mapping and linkage analysis; molecular diagnostics; gene expression; cytogenetics assessment; biomedical genetics; disease association studies; tumorigenesis of molecular levels; developmental genetics; and genetic epidemiology, in addition to genetics of complex disease [6, 7]. In general, genes can be considered as a key of most human inherited lesions. So, the benefit study of human genetics can be helpful to answer many questions concerning human diseases and invent effective drugs [8]. The passing of a certain genes from parents to offspring by biological process is called heredity. Each baby carries genes from their biological parents and some of these genes express particular trait or lesion [9]. Various traits may be physical like color of eyes, hair, skin, and other phenotypic matter. In other direction, some genes may play a key role in the risk of certain disorders and

Professor, Istanbul University, Turkey
