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Medical Genetics Of Jews
The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage (marriage of second cousins or closer). These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child. The genetics of Ashkenazi Jews have been particularly well studied because the phenomenon affects them the most. This has resulted in the discovery of many genetic disorders associated with this ethnic group. The medical genetics of Sephardic Jews and Mizrahi Jews are more complicated because they are genetically more diverse, and therefore no genetic disorders are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rare Disease
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. Fields condition is considered the rarest known disease, affecting three known individuals, two of whom are identical twins. With four diagnosed patients in 27 years, ribose-5-phosphate isomerase deficiency is considered the second rarest. While no single number has been agreed upon for which a disease is considered rare, several efforts have been undertaken to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Racial Supremacism
Supremacism is the belief that a certain group of people are superior to, and should have authority over, all others. The presumed superior group can be defined by age, gender, race, ethnicity, religion, sexual orientation, language, social class, ideology, nationality, culture, generation, or any other human characteristic. National Indian supremacism In Asia, Indians in Ancient India considered all foreigners barbarians. The Muslim scholar Al-Biruni wrote that the Indians called foreigners impure.''The First Spring: The Golden Age of India'' by Abraham Eraly p. 313 A few centuries later, Dubois observes that "Hindus look upon Europeans as barbarians totally ignorant of all principles of honour and good breeding... In the eyes of a Hindu, a Pariah ( outcaste) and a European are on the same level." The Chinese also considered the Europeans repulsive, ghost-like creatures, and they even considered them devils. Chinese writers also referred to foreigners as barbarians. Russia ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucocerebrosidase
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity () that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). It is localized in the lysosome, where it remains associated with the lysosomal membrane. β-Glucocerebrosidase is 497 amino acids in length and has a molecular mass of 59,700 Da. Structure β-Glucocerebrosidase is a member of the glycoside hydrolase family 30 and consists of three distinct domains (I-III). File:Structure of human beta-glucocerebrosidase @.png, Three-dimensional PyMol rendering of glucocerebrosidase with three domains highlighted. File:Glucocerebrosidase active site.png, Three-dimensional PyMol rendering of glucocerebrosidase with catalytic residues highlighted. Domain I (residues 1–27 and 383–414) forms a th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Drift
Genetic drift, also known as random genetic drift, allelic drift or the Wright effect, is the change in the Allele frequency, frequency of an existing gene variant (allele) in a population due to random chance. Genetic drift may cause gene variants to disappear completely and thereby reduce genetic variation. It can also cause initially rare alleles to become much more frequent and even fixed. When few copies of an allele exist, the effect of genetic drift is more notable, and when many copies exist, the effect is less notable (due to the law of large numbers). In the middle of the 20th century, vigorous debates occurred over the relative importance of natural selection versus neutral processes, including genetic drift. Ronald Fisher, who explained natural selection using Mendelian inheritance, Mendelian genetics, held the view that genetic drift plays at most a minor role in evolution, and this remained the dominant view for several decades. In 1968, population geneticist Mot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alleles
An allele is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. Alleles can differ at a single position through single nucleotide polymorphisms (SNP), but they can also have insertions and deletions of up to several thousand base pairs. Most alleles observed result in little or no change in the function or amount of the gene product(s) they code or regulate for. However, sometimes different alleles can result in different observable phenotypic traits, such as different pigmentation. A notable example of this is Gregor Mendel's discovery that the white and purple flower colors in pea plants were the result of a single gene with two alleles. Nearly all multicellular organisms have two sets of chromosomes at some point in their biological life cycle; that is, they are diploid. For a given locus, if the two chromosomes contain the same allele, they, and the organism, are homozygous with respect to that allele. If the alleles are differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Population Bottleneck
A population bottleneck or genetic bottleneck is a sharp reduction in the size of a population due to environmental events such as famines, earthquakes, floods, fires, disease, and droughts; or human activities such as genocide, speciocide, widespread violence or intentional culling. Such events can reduce the variation in the gene pool of a population; thereafter, a smaller population, with a smaller genetic diversity, remains to pass on genes to future generations of offspring. Genetic diversity remains lower, increasing only when gene flow from another population occurs or very slowly increasing with time as random mutations occur. This results in a reduction in the robustness of the population and in its ability to adapt to and survive selecting environmental changes, such as climate change or a shift in available resources. Alternatively, if survivors of the bottleneck are the individuals with the greatest genetic fitness, the frequency of the fitter genes within the gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Telomerase
Telomerase, also called terminal transferase, is a ribonucleoprotein that adds a species-dependent telomere repeat sequence to the 3' end of telomeres. A telomere is a region of repetitive sequences at each end of the chromosomes of most eukaryotes. Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly ''Drosophila melanogaster'' lacks telomerase, but instead uses retrotransposons to maintain telomeres. Telomerase is a reverse transcriptase enzyme that carries its own RNA molecule (e.g., with the sequence 3′- CCC AA UCCC-5′ in '' Trypanosoma brucei'') which is used as a template when it elongates telomeres. Telomerase is active in gametes and most cancer cells, but is normally absent in most somatic cells. History The existence of a compensatory mechanism for telomere shortening was first found by Soviet biologist Alexey Olovnikov in 1973, who also suggested the telomere hypothesis of aging and the telo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ascertainment Bias
In statistics, sampling bias is a bias (statistics), bias in which a sample is collected in such a way that some members of the intended statistical population, population have a lower or higher sampling probability than others. It results in a biased sample of a population (or non-human factors) in which all individuals, or instances, were not equally likely to have been selected. If this is not accounted for, results can be erroneously attributed to the phenomenon under study rather than to the method of sampling (statistics), sampling. Medical sources sometimes refer to sampling bias as ascertainment bias. Ascertainment bias has basically the same definition, but is still sometimes classified as a separate type of bias. Distinction from selection bias Sampling bias is usually classified as a subtype of selection bias, sometimes specifically termed sample selection bias, but some classify it as a separate type of bias. A distinction, albeit not universally accepted, of samplin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endogamy
Endogamy is the cultural practice of marrying within a specific social group, religious denomination, caste, or ethnic group, rejecting any from outside of the group or belief structure as unsuitable for marriage or other close personal relationships. Its opposite, exogamy, describes the social norm of marriage outside of the group. Endogamy is common in many cultures and ethnic groups. Several religious and Ethnic religion, ethnic religious groups are traditionally more endogamous, although sometimes mating outside of the group occurs with the added dimension of requiring Marital conversion, marital religious conversion. This permits an exogamous marriage, as the convert, by accepting the partner's religion, becomes accepted within the endogamous group. Endogamy may result in a higher rate of recessive gene–linked genetic disorders. Adherence Endogamy can encourage sectarianism and serves as a form of self-segregation. For instance, a community resists integration or comple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Haifa
The University of Haifa (, ) is a public research university located on Mount Carmel in Haifa, Israel. Founded in 1963 as a branch of the Hebrew University of Jerusalem, the University of Haifa received full academic accreditation as an independent university in 1972, becoming Israel's sixth academic institution and the fourth university. The university has the largest university library in Israel. As of 2019, approximately 18,000 students were enrolled at the University of Haifa. Among Israeli higher education institutions the University of Haifa has the largest percentage (41%) of Arab-Israeli students. Overview The University of Haifa was founded in 1963 by Haifa mayor Abba Hushi, to operate under the academic auspices of the Hebrew University of Jerusalem. Haifa University is located on Mount Carmel. In 1972, the University of Haifa declared its independence and became the sixth academic institution in Israel and the fourth university. About 18,100 undergraduate a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homozygote
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incompl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
