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- W977377279 endingPage "127" @default.
- W977377279 startingPage "113" @default.
- W977377279 abstract "Different types of genetic variants are present in the genome. Single nucleotide polymorphisms, or SNPs, are minor variations in the genetic sequence that differ between members of a species or even between paired chromosomes in an individual. There are common SNPs that occur in at least 1% of a population. These SNPs may be specific to an ethnic group or between individuals of a geographic region. There are also rare SNPs with minor allele frequencies of less than 1%. As will be seen in this chapter, these SNPs can be located in the non-coding regions of genes, such as the 5T allele in the cystic fibrosis transmembrane conductance regulator gene (CFTR) associated with congenital bilateral absence of the vas deferens, or within coding regions. Some SNPs are silent with no effect whereas others may act like a rheostat to influence disease susceptibility or severity, response to drugs or chemicals or immunological stimuli or infectious diseases. SNPs appear also to be very helpful in forensics to identify or exclude criminals based upon DNA evidence or in paternity testing. Copy number variants (CNVs) are gains or losses of large pieces of DNA consisting of 10,000–5 million nucleotides. Genetic diseases and even susceptibility to infections and complex diseases can be caused by CNVs. This chapter first describes SNPs and CNVs- their detection and importance and then focuses on SNPs in male infertility, including those impacting congenital disorders as well as reproductive function." @default.
- W977377279 created "2016-06-24" @default.
- W977377279 creator A5073494857 @default.
- W977377279 creator A5088539818 @default.
- W977377279 date "2009-01-01" @default.
- W977377279 modified "2023-10-18" @default.
- W977377279 title "Genetic Variants in Male Infertility" @default.
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