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The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2). When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is
Diploid organisms (e.g., humans) contain two copies of each gene—a paternal and a maternal allele. Based on the occurrence of mutation on each chromosome, we may classify mutations into three types. A wild type or homozygous non-mutated organism is one in which neither allele is mutated. A heterozygous mutation is a mutation of only one allele.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
A haplotype is a group of alleles in an organism that are inherited together from a single parent, [1] [2] and a haplogroup (haploid from the Greek: ἁπλοῦς, haploûs, "onefold, simple" and English: group) is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. [3]
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1]
In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by specific mutations in the non-recombining portions of DNA on the male-specific Y chromosome (Y-DNA). Individuals within a haplogroup share similar numbers of short tandem repeats (STRs) and single-nucleotide polymorphisms (SNPs). [2]
The human genome has a total length of approximately 3.2 billion base pairs (bp) in 46 chromosomes of DNA as well as slightly under 17,000 bp DNA in cellular mitochondria. In 2015, the typical difference between an individual's genome and the reference genome was estimated at 20 million base pairs (or 0.6% of the total). [2]
This is an accepted version of this page This is the latest accepted revision, reviewed on 8 December 2024. DNA molecule containing genetic material of a cell This article is about the DNA molecule. For the genetic algorithm, see Chromosome (genetic algorithm). Chromosome (10 7 - 10 10 bp) DNA Gene (10 3 - 10 6 bp) Function A chromosome and its packaged long strand of DNA unraveled. The DNA's ...