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X-linked Recessive Disorders
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sex-linked Inheritance
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
XY Sex-determination System
The XY sex-determination system is a sex-determination system used to classify many mammals, including humans, some insects (''Drosophila''), some snakes, some fish (guppies), and some plants (''Ginkgo'' tree). In this system, the sex of an individual is determined by a pair of sex chromosomes. Females have two of the same kind of sex chromosome (XX), and are called the homogametic sex. Males have two different kinds of sex chromosomes (XY), and are called the heterogametic sex. In humans, the presence of the Y chromosome is responsible for triggering male development; in the absence of the Y chromosome, the fetus will undergo female development. There are various exceptions, such as individuals with Klinefelter syndrome (who have XXY chromosomes), Swyer syndrome (women with XY chromosomes), and XX male syndrome (men with XX chromosomes), however these exceptions are rare. In most species with XY sex determination, an organism must have at least one X chromosome in order to sur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffin–Lowry Syndrome
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. Presentation Symptoms of disease are more severe in males, who are generally diagnosed in early childhood. Children with CLS display cognitive disabilities of varying severity. Additional neuromuscular features include sleep apnea, muscular spasticity, progressive loss of muscle strength and tone leading to paraplegia or partial paralysis. Affected individuals are at elevated risk of stroke. Some patients experience stimulus-induced drop attacks (SIDAs, temporary paralytic episodes without loss of consciousness), triggered by unpredictable environmental stimuli (touch, scents, sounds, etc.). SIDA episodes become more frequent as the disease progresses, and become frequent around adolescence in males. Additional clinical physical features ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alport Syndrome
Alport syndrome is a genetic disorder affecting around 1 in 5,000-10,000 children, characterized by glomerulonephritis, end-stage kidney disease, and hearing loss. Alport syndrome can also affect the eyes, though the changes do not usually affect vision, except when changes to the lens occur in later life. Blood in urine is universal. Proteinuria is a feature as kidney disease progresses. The disorder was first identified in a British family by the physician Cecil A. Alport in 1927. Alport syndrome once also had the label hereditary nephritis, but this is misleading as there are many other causes of hereditary kidney disease and 'nephritis'. Alport syndrome is caused by an inherited defect in type IV collagen—a structural material that is needed for the normal function of different parts of the body. Since type IV collagen is found in the ears, eyes, and kidneys, this explains why Alport syndrome affects different seemingly unrelated parts of the body (ears, eyes, kidneys, etc. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skewed X-inactivation
Skewed X-chromosome inactivation (skewed X-inactivation) occurs when the X-inactivation of one X chromosome is favored over the other, leading to an uneven number of cells with each chromosome inactivated. It is usually defined as one allele being found on the active X chromosome in over 75% of cells, and extreme skewing is when over 90% of cells have inactivated the same X chromosome. It can be caused by primary nonrandom inactivation, either by chance due to a small cell pool or directed by genes, or by secondary nonrandom inactivation, which occurs by selection. X-chromosome inactivation occurs in females to provide dosage compensation between the sexes. If females kept both X chromosomes active, they would have twice the number of active X genes than males, who only have one copy of the X chromosome. At approximately the time of embryonic implantation, one of the two X chromosomes in each cell of the female embryo is randomly selected for inactivation. Cells then undergo trans ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sex Linked Inheritance
Sex is the trait that determines whether a sexually reproducing animal or plant produces male or female gametes. Male plants and animals produce smaller mobile gametes (spermatozoa, sperm, pollen), while females produce larger ones (ova, often called egg cells). Organisms that produce both types of gametes are called hermaphrodites. During sexual reproduction, male and female gametes fuse to form zygotes, which develop into offspring that inherit traits from each parent. Males and females of a species may have physical similarities (sexual monomorphism) or differences (sexual dimorphism) that reflect various reproductive pressures on the respective sexes. Mate choice and sexual selection can accelerate the evolution of physical differences between the sexes. The terms ''male'' and ''female'' typically do not apply in sexually undifferentiated species in which the individuals are isomorphic (look the same) and the gametes are isogamous (indistinguishable in size and shape), ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
National Library Of Medicine
The United States National Library of Medicine (NLM), operated by the United States federal government, is the world's largest medical library. Located in Bethesda, Maryland, the NLM is an institute within the National Institutes of Health. Its collections include more than seven million books, journals, technical reports, manuscripts, microfilms, photographs, and images on medicine and related sciences, including some of the world's oldest and rarest works. The current director of the NLM is Patricia Flatley Brennan.National Library of Medicine Welcomes New Director Dr. Patricia Flatley Brennan . ''National Library of Medicine''. August 15, 2016. History The precursor o ...[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Zygosity
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] |
X Recessive Carrier Mother
X, or x, is the twenty-fourth and third-to-last letter in the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''"ex"'' (pronounced ), plural ''exes''."X", ''Oxford English Dictionary'', 2nd edition (1989); ''Merriam-Webster's Third New International Dictionary of the English Language, Unabridged'' (1993); "ex", ''op. cit''. X is regularly pronounced as "ks". History In Ancient Greek, ' Χ' and ' Ψ' were among several variants of the same letter, used originally for and later, in western areas such as Arcadia, as a simplification of the digraph 'ΧΣ' for . In the end, more conservative eastern forms became the standard of Classical Greek, and thus 'Χ' ''(Chi)'' stood for (later ; palatalized to in Modern Greek before front vowels). However, the Etruscans had taken over 'Χ' from western Greek, and it therefore stands for in Etruscan and Latin. The letter 'Χ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Dominant Affected Mother
X, or x, is the twenty-fourth and third-to-last letter in the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''"ex"'' (pronounced ), plural ''exes''."X", ''Oxford English Dictionary'', 2nd edition (1989); ''Merriam-Webster's Third New International Dictionary of the English Language, Unabridged'' (1993); "ex", ''op. cit''. X is regularly pronounced as "ks". History In Ancient Greek, ' Χ' and ' Ψ' were among several variants of the same letter, used originally for and later, in western areas such as Arcadia, as a simplification of the digraph 'ΧΣ' for . In the end, more conservative eastern forms became the standard of Classical Greek, and thus 'Χ' ''(Chi)'' stood for (later ; palatalized to in Modern Greek before front vowels). However, the Etruscans had taken over 'Χ' from western Greek, and it therefore stands for in Etruscan and Latin. The letter 'Χ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Dominant Affected Father
X, or x, is the twenty-fourth and third-to-last letter in the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''"ex"'' (pronounced ), plural ''exes''."X", ''Oxford English Dictionary'', 2nd edition (1989); ''Merriam-Webster's Third New International Dictionary of the English Language, Unabridged'' (1993); "ex", ''op. cit''. X is regularly pronounced as "ks". History In Ancient Greek, ' Χ' and ' Ψ' were among several variants of the same letter, used originally for and later, in western areas such as Arcadia, as a simplification of the digraph 'ΧΣ' for . In the end, more conservative eastern forms became the standard of Classical Greek, and thus 'Χ' ''(Chi)'' stood for (later ; palatalized to in Modern Greek before front vowels). However, the Etruscans had taken over 'Χ' from western Greek, and it therefore stands for in Etruscan and Latin. The letter 'Χ' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Reciprocal Cross
In genetics, a reciprocal cross is a breeding experiment designed to test the role of parental sex on a given inheritance pattern. All parent organisms must be true breeding to properly carry out such an experiment. In one cross, a male expressing the trait of interest will be crossed with a female not expressing the trait. In the other, a female expressing the trait of interest will be crossed with a male not expressing the trait. It is the cross that could be made either way or independent of the sex of the parents. For example, suppose a biologist wished to identify whether a hypothetical allele Z, a variant of some gene A, is on the male or female sex chromosome. They might first cross a Z-trait female with an A-trait male and observe the offspring. Next, they would cross an A-trait female with a Z-trait male and observe the offspring. Via principles of dominant and recessive alleles, they could then (perhaps after cross-breeding the offspring as well) make an inference as to w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
