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Chromosome number human

In 1993/1994 a series of publications caused a stir in the AD research community, since for the first time they linked a specific neuropathological process in late-onset AD to a genetic marker. Researchers looking at the composition of plaques found that the protein apolipoprotein E (ApoE) was associated with p-amyloid in the cerebrospinal fluid (CSF) of AD patients (Strittmatter et al., 1993). The gene for ApoE is on the same human chromosome (number 19) which was a risk factor in some AD pedigrees. The gene for ApoE comes in three versions (alleles) Apo s2, Apo s3 and, most importantly, Apo s4 these result in three slightly different variants of the protein. Humans carry two versions of the allele and so can have none, one or two of any of the versions of the Apo... [Pg.198]

HSA is a 585 amino acid, 65.5 kDa polypeptide. It is one of the few plasma proteins that are unglycosylated. A prominent feature is the presence of 17 disulfide bonds, which help stabilize the molecule s three-dimensional structure. HSA is synthesized and secreted from the liver, and its gene is present on human chromosome number 4. [Pg.354]

The other type of cell division, meiosis, ensures that humans have the same number of chromosomes in each generation. It is a two-step process that reduces the chromosome number by half—from 46 to 23—to form sperm and egg cells. When the sperm and egg cells unite at conception, each contributes 23 chromosomes so the resulting embryo will have the usual 46. Meiosis also allows genetic variation through a process of DNA shuffling while the cells are dividing. [Pg.21]

Within the cell is the nucleus with the chromosomes. DNA strands are housed within the chromosomes, together with some proteins. The 46 human chromosomes are grouped into 22 pairs and two sex chromosomes. Numbering of chromosomes is based on size, chromosome 1 being the largest and 22 the smallest. [Pg.401]

Family Human Chromosome Number of Genes AA Number" Homology ... [Pg.162]

Right The human karyotype/ a full set of chromosomes numbered according to size and content and showing characteristic banding patterns. The 22 autosomes plus either an X or Y chromosome make up the haploid set which, for the female, contains - 3,500 Mbp of DNA. Each diploid cell contains 46 chromosomes. From Alberts et at. [Pg.1472]

Sex determination. The sex of an individual is determined by the chromosomes. In humans and other mammals presence or absence of a Y chromosome determines the sex. However, in many organisms including C. elegans and Drosophila this is not true. Although Drosophila males like human males are XY, it is the ratio of the number of X chromosomes to the number of sets of autosome (A) that determines the sex. This is also true for C. elegans, which has no... [Pg.1893]

The DNA that makes up our genetic material is divided into 46 pieces within the cell These pieces are called chromosomes. People have 22 numbered chromO somes, each of which occurs in duplicate, and 2 sex chromosomes. The sex chromosomes of females consist of two X chromosomes, while the sex chromosomes of males consist of one X chromosome and one Y ebtornosome. Where a cell contains duplicate copies of most, or all, of its chromosomes, the cell is called a diploid cell. Human genetic material contains an estimated 80,000 genes (Collins et aL, 1997). For comparison, the genetic material of the yeast contains 6400 genes. Not counting duplication of all DNA in the cell, which exists because of the occunence of diploid chromosomes, each human cell contains about 3 billion nucleotides in its DNA (Schuler cf ai, 1996). [Pg.33]

Chromosome anomalies and aberrations can influence heredity. Most somatic cells of humans contain 23 pairs of chromosomes, with one member of each pair contributed by the sperm and the other contributed by the egg. When the process of sperm or egg cell production goes awry as a result of radiation damage, abnormal chromosome numbers (aneuploidy) can arise. Aneuploidy is a form of genetic instability. [Pg.2193]

The units one has to work with, the taxa from low to high, may be fixed, about the contents of these concepts a number of questions can be asked. Partly these questions are philosophical (does a species, a genus really exist in nature or only in the human mind ), partly they are quite practical (to which criteria must species, genera etc. answer ). Especially about the species concept there has been a lot of discussion and opinions did and do differ. For many a species is a unit that has to be morphologically recognizable with preferentially two constant differences with other species, for others the species is more or leas identical with the hybridization com-munity. Genet.ical "identity" of the components of a species is an important criterium and may lead some to forbid different chromosome numbers within one species. The battle about "biological and "taxonomical or less clear event linnean)" species started in the forties when herbarium taxonomists were confronted with students of... [Pg.7]

Human gametes have 23 chromosomes (haploid chromosome number n = 23), while most somatic cells have 46 chromosomes (diploid chromosome number 2n = 46). [Pg.2]

The answer is d. (Murray, pp 812—828. Scriver, pp 3-45. Sack, pp 57-84. Wilson, pp 123—148.) The case described represents one of the more common chromosomal causes of reproductive failure. Turner mosaicism. Turner s syndrome represents a pattern of anomalies including short stature, heart defects, and infertility. Turner s syndrome is often associated with a 45,X karyotype (monosomy X) in females, but mosaicism (i.e., two or more cell lines with different karyotypes in the same individual) is common. However, chimerism (i.e., two cell lines in an individual arising from different zygotes, such as fraternal twins who do not separate) is extremely rare. Trisomy refers to three copies of one chromosome, euploidy to a normal chromosome number, and monoploidy to one set of chromosomes (haploidy in humans). [Pg.327]

It has long been considered that genetic instability is an integral component of human neoplasia. In a small fraction of tumors, mismatch repair deficiency leads to a microsateUite instability at the nucleotide sequence level. In other tumors, an abnormal chromosome number (aneuploidy) has suggested an instability. [Pg.641]


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See also in sourсe #XX -- [ Pg.216 ]




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