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Topic: Autosomal recessive trait


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In the News (Fri 25 Dec 09)

  
  MedlinePlus Medical Encyclopedia: Autosomal recessive
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.
An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.
Inheritance of a specific disease, condition, or trait depends on the type of chromosome affected (autosomal or sex chromosome) whether the trait is is dominant or recessive.
www.nlm.nih.gov /medlineplus/ency/article/002052.htm   (403 words)

  
  Recessive gene - Wikipedia, the free encyclopedia
Autosomal recessive is a mode of inheritance of genetic traits located on the autosomes (the 22 non-sex determining chromosomes).
Recessive genetic disorders occur when both parents are carriers and each contributes an allele to the embryo.
Recessive genes are usually represented by a lowercase letter in a Punnett square, as opposed to the uppercase letters of dominant genes (see example at right).
en.wikipedia.org /wiki/Autosomal_recessive   (835 words)

  
 Autosomal recessive
An abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from each parent is required to cause the disease.
The inheritance of genetic diseases, abnormalities, or traits is described by both the type of chromosome on which the abnormal gene resides (autosomal or sex chromosome), and by whether the gene itself is dominant or recessive.
For an autosomal recessive disorder: When both parents are carriers of an autosomal recessive trait, there is a 25% chance of a child inheriting abnormal genes from both parents, and therefore of developing the disease.
www.stv.org /adam/encyclopedia/ency/article/002052.htm   (531 words)

  
 Understanding General Canine Genetics
The inheritance of genetic diseases, abnormalities or traits is described by both the type of chromosome on which the abnormal gene resides (autosomal chromosomes vs. sex chromosomes) and by whether the trait itself is "dominant" or "recessive".
Autosomal diseases (the most common mode of inheritance for genetic conditions in dogs) are inherited via the X autosomal chromosomes (since there are no Y autosomal chromosomes) while sex-linked diseases are inherited through either the X or the Y chromosome of the sex chromosomes.
If the trait is a sex-linked recessive trait, it means that an abnormal gene on the X chromosome from each parent is required to cause the disease.
spear-barkennels.com /Genetics.php   (1486 words)

  
 WE MOVE - Glossary
Autosomal dominant trait: Human traits, including an individual's eye color, hair color, or expression of certain diseases, result from the interaction of one gene inherited from the father and one gene from the mother.
Autosomal recessive trait: Human traits, including an individual's hair color, specific blood group, or expression of certain diseases, result from the interaction of one gene inherited from the mother and one from the father.
Homocystinuria, which may be transmitted as an autosomal recessive trait, may result from deficient activity of certain enzymes involved in the metabolic conversion of the amino acid methionine to cysteine.
www.wemove.org /glossary   (17375 words)

  
 CIGNA - Kenny-Caffey Syndrome
Pyknodysostosis is inherited as an autosomal recessive trait.
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.
www.cigna.com /healthinfo/nord1036.html   (2532 words)

  
 Autosomal recessive
An abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from each parent is required to cause the disease.
The inheritance of genetic diseases, abnormalities, or traits is described by both the type of chromosome on which the abnormal gene resides (autosomal or sex chromosome), and by whether the gene itself is dominant or recessive.
Recessive inheritance occurs when BOTH genes of a pair must be abnormal to produce disease.
www.healthscout.com /ency/1/002052.html   (315 words)

  
 BIOL 354, Solutions, Chapter 5
A father with the trait married to a normal woman passes it along to all his daughters and none of his sons and a mother with the trait (A in this pedigree) married to a normal father passes it on to approximately half of her children without regard to sex.
Lastly, it could be autosomal recessive, but that is even less likely because we would have to assume that B was a carrier and for a rare trait like this the chance of a carrier from the general population marrying an affected individual is very unlikely.
Cataracts is an autosomal dominant gene and Pituitary Dwarfism is an autosomal recessive trait.
www.puc.edu /Faculty/Bryan_Ness/b354ha5.htm   (925 words)

  
 Post Comment
Homocystinuria is inherited as an autosomal recessive trait.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder.
Parents who are both carriers of an autosomal recessive disorder have a 25% risk of producing an offspring affected by the disease and a 50% risk of producing normal-appearing carriers.
www.blurty.com /talkpost.bml?journal=crilism&itemid=61100   (883 words)

  
 Synthetic Theory of Evolution: Glossary of Terms
The result would be a progressive reduction of the recessive allele in the gene pool of the population and, subsequently, a reduction in the number of people who have the disease.
an allele that masks the presence of a recessive allele.
In the case of polygenic traits that are expressed as a continuum of phenotypes, such as human stature, it would be selection for people who are in the middle of the range and against those who are very tall or very short.
anthro.palomar.edu /synthetic/glossary.htm   (4294 words)

  
 Autosomal Recessive Inheritance   (Site not responding. Last check: 2007-10-26)
Autosomal recessive (AR) diseases are those in which only individuals who are homozygous for the mutant allele develop the disease.
The trait is often found in clusters of siblings but not in their parents and offspring.
Because of this, autosomal recessive diseases are often found to cluster in siblings.
www.uic.edu /nursing/genetics/Lecture/Types/SingleGene/AutosomalRecessive/AR.htm   (701 words)

  
 AUTOSOMAL RECESSIVE FAMILIAL SPASTIC PARAPLEGIA WITH EARLY ONSET   (Site not responding. Last check: 2007-10-26)
The recessive form of FSP with early onset is rare and its clinical characteristics are not yet clearly delineated (1,13,19,32).
In conclusion, our FSP cases with autosomal recessive transmission had an early onset in the first 3 years of life, followed a severe clinical course, similar in both sexes and were expressed with multiple findings, in addition to spastic paraparesis.
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
www.med.ege.edu.tr /~norolbil/2001/NBD15901.html   (2967 words)

  
 Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
Autosomal recessive inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22).
"Recessive" means that two copies of the gene are necessary to have the trait, one inherited from the mother, and one from the father.
Once parents have had a child with a recessive trait or disease, there is a one out of four, or 25 percent chance, with each subsequent pregnancy, for another child to be born with the same trait or disorder.
www.healthsystem.virginia.edu /uvahealth/peds_genetics/recessive.cfm   (979 words)

  
 Myopathy, Myotubular
Autosomal recessive Myotubular Myopathy is a less severe form of the disorder that presents itself during infancy or childhood.
Autosomal dominant Myotubular Myopathy is the mildest form of the disorder and presents itself between the first and third decades.
It is inherited as an autosomal recessive trait.
hw.healthdialog.com /kbase/nord/nord983.htm   (2058 words)

  
 autosomal recessive inheritance - General Practice Notebook
Autosomal recessive inheritance is characterised by a disease trait only appearing in the homozygote carrier.
Autosomal recessive diseases affect each sex to equal extents, and when acquired they always present in a stereotyped manner with little variability of expression.
A minority of autosomal recessive traits are due to inborn errors of metabolism with defective enzymes.
www.gpnotebook.co.uk /simplepage.cfm?ID=-1308229598   (975 words)

  
 Encyclopedia   (Site not responding. Last check: 2007-10-26)
People with only one abnormal gene in the gene pair are called carriers, but since the gene is recessive they do not exhibit the disease.
BOTH parents must be carriers in order for a child to have symptoms of the disease. A child who inherits the gene from one parent will be a carrier.
For an autosomal recessive disorder: When both parents are carriers of an autosomal recessive trait, there is a 25% chance of a child inheriting abnormal genes from both parents, and therefore of developing the disease.
www.utmedicalcenter.org /encyclopedia?file=002052.htm   (548 words)

  
 Evaluating the Child with Purpura - August, 2001 - American Family Physician
Fanconi anemia, also an autosomal recessive disorder, is characterized by pancytopenia, hyperpigmentation and café au lait spots, short stature, skeletal abnormalities and a wide array of integumentary and systemic abnormalities.
Glanzmann's thrombasthenia is an autosomal recessive disorder caused by congenital deficiency in the platelet membrane glycoproteins IIb and IIIa.
Bernard-Soulier disease is an autosomal recessive disorder caused by a congenital deficiency in platelet membrane glycoprotein Ib and coagulation factors X and V. Affected patients have large platelets and decreased ristocetin-induced platelet aggregation.
www.aafp.org /afp/20010801/419.html   (3739 words)

  
 CIDD- Introduction
Since PRA is a recessive trait, p is the affected allele, and P the normal allele.
As long as the frequency of a gene for a recessive disorder remains low in the population, the particular gene may be passed along for many generations before by chance 2 carriers are mated and affected individuals are born.
Because the recessive gene is carried in the population in outwardly normal animals, it is very difficult to eradicate these traits.
www.upei.ca /~cidd/howare.htm   (1647 words)

  
 Genetics Glossary
Cystic fibrosis -- an autosomal recessive genetic condition of the exocrine glands, which causes the body to produce excessively thick, sticky mucus that clogs the lungs and pancreas, interfering with breathing and digestion.
Recessive -- a gene that is phenotypically manifest in the homozygous state but is masked in the presence of a dominant allele.
Von Hippel-Lindau syndrome -- an autosomal dominant condition characterized by the anomalous growth and proliferation of blood vessels on the retina of the eye and the cerebellum of the brain; cysts and cancers in the kidneys, pancreas, and adrenal glands.
www.kumc.edu /gec/glossnew.html   (3910 words)

  
 [No title]
Thus the trait is a recessive trait on either an autosome or an X-chromosome.
This is because the brown-toothed mother is heterozygous for the trait and thus she has a 0.50 chance of passing the brown-toothed allele on to any of her offspring.
Note that the ratio of the X-linked trait is 1 wildtype to 1 white-eyed for both sexes, just as you would predict for an X-linked trait (see problem #1), while the ratio of wildtype to ebony is 3:1, just as you would predict for a monohybrid cross.
www.emporia.edu /biosci/genetics/prob5.htm   (2406 words)

  
 Hypohidrotic ectodermal dysplasia - Genetics Home Reference
Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
Autosomal recessive inheritance means two copies of the gene in each cell are altered.
Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
ghr.nlm.nih.gov /condition=hypohidroticectodermaldysplasia   (984 words)

  
 Glossary
For autosomal recessive traits or diseases, two carriers have a 1-in-4 or 25% chance of having a child with the trait or disease in each pregnancy.
Cystic Fibrosis: An autosomal recessive disease in which a thick mucus clogs the lungs and blocks the ducts of the pancreas.
A person who is heterozygous for an autosomal recessive disorder, (such as Tay-Sachs) with one fully functional copy and one non-functioning copy, is called a carrier and is unaffected with the disorder.
www.reproductivegenetics.com /glossary.html   (9922 words)

  
 Genetic Disorders
An autosomal recessive disorder will most commonly occur when both parents carry the trait and the offspring receives the nonfunctional gene from each parent.
Recessive means the traits of the nonfunctional gene are hidden by the normal gene or the normal gene traits override the nonfunctioning gene.
Cystic fibrosis (CF) is an autosomal recessive, inherited disorder that affects breathing and digestion.
www.chw.org /display/PPF/DocID/34306/Nav/1/router.asp   (4500 words)

  
 The Universe of Genetic Testing
One pattern is referred to as autosomal dominant, in which the transmission of a single copy of a gene on one of the autosomal chromosomes is sufficient to cause a certain trait to appear (such as eye color or a specific disease).
A second pattern of inheritance is termed autosomal recessive and requires inheritance of two genetic variant copies of the same gene, one copy being inherited from an individual's mother and the second copy being inherited from an individual's father, for the trait to appear or the disease to develop.
With X-linked recessive diseases, a female carries the abnormal gene on one of her two X chromosomes, but because she possesses one normal copy of the gene, she is not affected.
www.labtestsonline.org /understanding/features/genetics-2.html   (1060 words)

  
 CIGNA - Leigh's Disease
These mutations may be inherited as an autosomal recessive trait, an X-linked recessive trait, or as a mutation found within the DNA of mitochondria.
In cases of Leigh's disease that are inherited as an X-linked recessive trait, the symptoms typically develop during infancy.
Tay-Sachs disease is inherited as an autosomal recessive trait.
www.cigna.com /healthinfo/nord392.html   (3679 words)

  
 Autosomal definition - Medical Dictionary definitions of popular medical terms
Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
People normally have 22 pairs of autosomes (44 autosomes) in each cell together with two sex chromosomes (X and Y in the male and XX in the female).
Examples: An autosomal gene is a gene on an autosome.
www.medterms.com /script/main/art.asp?articlekey=15358   (239 words)

  
 Autosomal Recessives in Dwarfism in Pyrs
Autosomal recessive traits are characteristics resulting when two heterozygous parents (parents possessing ONE defective gene each) are bred, resulting in an offspring that is homozygous (possesses a matched pair of defective genes.) In this case, the parents would be phenotypically normal, meaning not exhibiting the defect.
Test breeding by definition is the use of a known genetic carrier bred to a mate of unknown genetic status for the purpose of visually evaluating the progeny of the union.
Since both parents need to be carriers of this single gene defect for the trait to appear, it is relatively straightforward to determine who is a carrier, with a degree of statistical certainty.
www.sonic.net /~cdlcruz/dwarfs/AutosomalRecessive.htm   (1134 words)

  
 The Feline PKD FAQ -- Answers to Frequently Asked Questions About PKD in Cats
Note that for a autosomal *recessive* characteristic, the opposite is true -- ZZ would represent a homozygous unaffected individual, Zz would represent a heterogygous unaffected individual who was also a "carrier" [the recessive z gene is masked by the dominant unaffected Z gene], and zz would represent the affected individual.
Autosomal Recessive PKD does exist in humans, but is a childhood onset disease that is almost always fatal before the individual reaches adulthood.
Autosomal Recessive genes will only express themselves when in the homozygous state -- i.e., both genes in the gene pair are the recessive gene form.
my.erinet.com /~lebordo/PKD/pkdfaq.html   (9611 words)

  
 C Syndrome
C Syndrome is a rare disorder thought to be inherited as an autosomal recessive trait.
Trigonocephaly (autosomal recessive) is a rare disorder that is inherited as an autosomal recessive trait.
Patients with this disorder are born without the nerve fibers that are related to the sense of smell, as well as a malformation in which the skull is a triangular shape partially caused by premature closure of the bones (trigonocephaly).
hw.healthdialog.com /kbase/nord/nord917.htm   (1082 words)

  
 Connecticut Children's Medical Center: Research at CCMC - How Is Biotinidase Deficiency Inherited?
Biotinidase deficiency is inherited as an autosomal recessive trait.
This means that the gene is on an autosome rather than a sex chromosome, and that the trait or disorder, is only expressed when an individual has two "doses" of the abnormal gene, one inherited from each parent.
We are all carriers of genes for recessive genetic conditions.
www.ccmckids.org /research/Biotinidase/BiotinidaseInherited.htm   (881 words)

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