X-linked recessive

• X連鎖劣性遺伝の、伴性劣性遺伝の

WordNet

1. the means of connection between things linked in series (同)nexus
2. a unit of length equal to 1/100 of a chain
3. an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
4. a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
5. (computing) an instruction that connects one part of a program or an element on a list to another program or list
6. (of genes) producing its characteristic phenotype only when its allele is identical
7. the 24th letter of the Roman alphabet (同)x, ex

PrepTutorEJDIC

1. (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
2. たいまつ
3. 後退する,退行の / (遺伝が)劣性の / 劣性遺伝形質
4. Christ / Christian
5. x-axis

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/03/05 09:53:33」(JST)

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X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed (1) in males (who are necessarily hemizygous for the gene mutation because they have only one X chromosome) and (2) in females who are homozygous for the gene mutation (i.e., they have a copy of the gene mutation on each of their two X chromosomes).

X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X chromosome inactivation can lead to varying degrees of clinical expression in carrier females since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499 and the total including vaguely defined traits is 983.

Some scholars have suggested discontinuing the terms dominant and recessive when referring to X-linked inheritance due to the multiple mechanisms that can result in the expression of X-linked traits in females, which include cell autonomous expression, skewed X-inactivation, clonal expansion, and somatic mosaicism.

Sex Differences In Phenotype/Genotypes and Frequency

In humans, generally "men are affected and women are carriers" for two reasons. The first is the simple statistical fact that if the X-chromosomes is a population that carry a particular X-linked mutation at a frequency of 'f' (for example, 1%) then that will be the frequency that men are likely to express the mutation (since they have only one X), while women will express it at a frequency of f² (for example 1% * 1% = 0.01%) since sup they have two X's and hence two chances to get the normal allele. Thus, X-linked mutations tend to be rare in women. The second reason for female rarity is that women who express the mutation must have two X chromosomes that carry the trait and they necessarily got one from their father, who would have also expressed the trait because he only had one X chromosome in the first place. If the trait lowers the probability of fathering a child or induces the father to only have children with women who aren't carriers (so as not to create daughters who are carriers rather than expressers and then only if no genetic screening is used) then women become even less likely to express the trait.

Examples

Most common

The most common X-linked recessive disorders are:

• Red-green color blindness, a very common trait in humans and frequently used to explain X-linked disorders. Between seven and ten percent of men and 0.49% to 1% of women are affected. Its commonness may be explained by its relatively benign nature. It is also known as daltonism.
• Hemophilia A, a blood clotting disorder caused by a mutation of the Factor VIII gene and leading to a deficiency of Factor VIII. It was once thought to be the "royal disease" found in the descendants of Queen Victoria. This is now known to have been Hemophilia B (see below).
• Hemophilia B, also known as Christmas Disease, a blood clotting disorder caused by a mutation of the Factor IX gene and leading to a deficiency of Factor IX. It is rarer than haemophilia A. As noted above, it was common among the descendants of Queen Victoria.
• Duchenne muscular dystrophy, which is associated with mutations in the dystrophin gene. It is characterized by rapid progression of muscle degeneration, eventually leading to loss of skeletal muscle control, respiratory failure, and death.
• Becker's muscular dystrophy, a milder form of Duchenne, which causes slowly progressive muscle weakness of the legs and pelvis.
• X-linked ichthyosis, a form of ichthyosis caused by a hereditary deficiency of the steroid sulfatase (STS) enzyme. It is fairly rare, affecting one in 2,000 to one in 6,000 males.
• X-linked agammaglobulinemia (XLA), which affects the body's ability to fight infection. XLA patients do not generate mature B cells. B cells are part of the immune system and normally manufacture antibodies (also called immunoglobulins) which defends the body from infections (the humoral response). Patients with untreated XLA are prone to develop serious and even fatal infections.
• Glucose-6-phosphate dehydrogenase deficiency, which causes nonimmune hemolytic anemia in response to a number of causes, most commonly infection or exposure to certain medications, chemicals, or foods. Commonly known as "favism", as it can be triggered by chemicals existing naturally in broad (or fava) beans.

Less common disorders

See also: X-linked mental retardation

Theoretically, a mutation in any of the genes in the Category:Genes on chromosome X may cause disease, but below are some notable ones, with short description of symptoms:

• Adrenoleukodystrophy; leads to progressive brain damage, failure of the adrenal glands and eventually death.
• Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss.
• Androgen insensitivity syndrome; variable degrees of undervirilization and/or infertility in XY persons of either gender
• Barth syndrome; metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.
• Blue Cone Monochromacy; low vision acuity, color blindness, photophobia, infantile nystagmus.
• Centronuclear myopathy; where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery.
• Charcot-Marie-Tooth disease (CMTX2-3); disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease.
• Coffin-Lowry syndrome; severe mental retardation sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis as well as auditory and visual abnormalities.
• Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular involvement.
• Hunter's Syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen.
• Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia
• Kabuki syndrome; multiple congenital anomalies and mental retardation.
• Kennedy disease; muscle cramps and progressive weakness
• Lesch-Nyhan syndrome; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia)
• Lowe Syndrome; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets
• Menkes disease; sparse and coarse hair, growth failure, and deterioration of the nervous system
• Nasodigitoacoustic syndrome; mishaped nose, brachydactyly of the distal phalanges, sensorineural deafness
• Nonsyndromic deafness and X-linked nonsyndromic deafness; hearing loss
• Norrie disease; cataracts, leukocoria along with other developmental issues in the eye
• Occipital horn syndrome; deformations in the skeleton
• Ornithine transcarbamylase deficiency; developmental delay and mental retardation. Progressive liver damage, skin lesions, and brittle hair may also be seen
• Siderius X-linked mental retardation syndrome; cleft lip and palate with mental retardation and facial dysmorphism, caused by mutations in the histone demethylase PHF8
• Simpson-Golabi-Behmel syndrome; coarse faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip
• Spinal muscular atrophy caused by UBE1 gene mutation; weakness due to loss of the motor neurons of the spinal cord and brainstem
• Wiskott-Aldrich syndrome; eczema, thrombocytopenia, immune deficiency, and bloody diarrhea
• X-linked Severe Combined Immunodeficiency (SCID); infections, usually causing death in the first years of life
• X-linked sideroblastic anemia; skin paleness, fatigue, dizziness and enlarged spleen and liver.

See also

• Sex linkage
• X-linked dominant inheritance

External links

• X-linked diseases from the Wellcome Trust

References

UpToDate Contents

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• 1. デント病（X連鎖劣性腎結石症） dents disease x linked recessive nephrolithiasis
• 2. 遺伝性低リン血症性くる病と腫瘍誘発性骨軟化症 hereditary hypophosphatemic rickets and tumor induced osteomalacia
• 3. 腎石灰沈着症 nephrocalcinosis
• 4. 小児における腎結石症の疫学および危険因子 epidemiology of and risk factors for nephrolithiasis in children
• 5. 成人におけるカルシウム結石の危険因子 risk factors for calcium stones in adults

English Journal

• Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.

• van der Werf CS1, Halim D2, Verheij JB1, Alves MM2, Hofstra RM3.
• Biochimica et biophysica acta.Biochim Biophys Acta.2015 Nov;1852(11):2352-61. doi: 10.1016/j.bbadis.2015.08.007. Epub 2015 Aug 15.
• Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder in which the mean length of the small intestine is substantially reduced when compared to its normal counterpart. Families with several affected members have been described and CSBS has been suggested to have a genetic basis.
• PMID 26282049

• Epilepsy phenotypes in siblings with Norrie disease.

• Okumura A1, Arai E2, Kitamura Y3, Abe S3, Ikeno M3, Fujimaki T2, Yamamoto T4, Shimizu T3.
• Brain & development.Brain Dev.2015 Nov;37(10):978-82. doi: 10.1016/j.braindev.2015.04.004. Epub 2015 May 2.
• Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to incre
• PMID 25944760

• Comparison of human coagulation factor VIII expression directed by cytomegalovirus and mammary gland-specific promoters in HC11 cells and transgenic mice.

• Wang Q1, Hao S, Ma L, Zhang W, Wan J, Deng X.
• Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.Blood Coagul Fibrinolysis.2015 Oct;26(7):755-61. doi: 10.1097/MBC.0000000000000318.
• Hemophilia A is an inherited X-linked recessive bleeding disorder caused by coagulant factor VIII (FVIII) deficiency. The conventional treatment involves the administration of recombinant human FVIII (rhFVIII) preparations. In this study, the mammary gland 'bioreactor' is designed to specifically an
• PMID 26192111

Japanese Journal

• Dent disease: Same <i>CLCN5</i> mutation but different phenotypes in two brothers in China

• Intractable & Rare Diseases Research 6(2), 114-118, 2017
• NAID 130005695976

• Diagnosis and treatment of Dent disease in 10 Chinese boys

• Intractable & Rare Diseases Research 6(1), 41-45, 2017
• NAID 130005466195

• Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior

• Intractable & Rare Diseases Research 6(1), 65-68, 2017
• NAID 130005466192

Related Links

• X-linked recessive - definition of X-linked recessive by Medical ...

X-linked recessive Genetics adjective Referring to a mode of inheritance, in which a gene on the X chromosome requires one copy for phenotypic expression in , but 2 copies for expression in ; with the gene only on the X ...

• X-linked recessive - Glossary Entry - Genetics Home Reference

A mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males who are hemizygous for the gene mutation (i.e., they have only one X chromosome) and in ...

Related Pictures

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★リンクテーブル★

リンク元	「X連鎖劣性遺伝」
拡張検索	「X-linked recessive hydrocephalus」
関連記事	「link」「recessive」「linked」「X」

「X連鎖劣性遺伝」

　　[★]

英

X-linked recessive inheritance, X-linked recessive

関

伴性劣性遺伝、X連鎖劣性遺伝病

「X-linked recessive hydrocephalus」

　　[★] X染色体劣性遺伝性水頭症

「link」

　　[★]

• n.

• 関連、連鎖、連結、リンク

• v.

• 関連づける、連結する、連接する

関

associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant

　 　 　 　 　 　 　

「recessive」

　　[★]

• adj.

• 劣性の、劣性遺伝性の

関

inferior、recessively、recessiveness

　 　

「linked」

　　[★]

• adj.

• 連鎖の、連鎖的な、連鎖性の

関

catenation、link、linkage

「X」

　　[★] キサントシン, xanthosine