Conceptual Sinopsis - Lecture notes 5 PDF

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CONCEPTUAL SINOPSIS....

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CONCEPTUAL SINOPSIS. GENETIC: Science that is responsible for studying biological heritage and how the traits of different species are transmitted biologically from one generation to the next. The purposes are to discover how hereditary characters are represented. Discover how these factors are transmitted from parents to children. Find out how these factors influence the development of the individual. It relies on cytology, biometrics, family trees. DESPITE: They are small filamentous, dark-colored corpuscles that are located in the nucleus of the cell being only visible to the moments prior to cell division. Their mission is to transport the hereditary material. Hereditary material in periods of cell non-division is dispersed within the cell nucleus, receiving the name chromatin. When the division is to be produced, the material is rearranged by configuring the chromosomes formed by two chromatids. There are four types of chromosomes depending on where the centromer or narrowing between chromatids is located. Centromere.

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METACENTRIC CHROMOSOME; the centromer is in the middle of both chromatids. Dividing the chromosome into equal arms. SUBMETACENTRICUS SYNDROME; in which the centromer makes a small difference in the size of both arms. SUBTELOCENTRICO CONCELY; where both arms have a clear differentiation. TELOCENTRICO SYNDROME; the centromer is located in the center of both chromatids.

Types by number: There are 46 chromosomes in the human species that influence, they are the sexual pair. The cell containing the 46 chromosomes is 2n (diploid). When a cell only has half it is called a Haploid cell and is n. Chromosomes are composed of deoxyribonucleic acid (DNA), wrapped in a protein frame. Gene. Hereditary unit composed of DNA and constituting the material that causes the appearance of hereditary characters. Locus. It is the place that each gene occupies within a chromosome. Allele. Different alternatives that have a gene within one species and that must be found in the Locus of both homologous chromosomes. HOMOLOGOS CHROMOSOMES. Those who agree on genetic information. LINKED GENES. They are those whose Locus are on the same chromosome. Karyotype. It is the chromosomal constitution, typical of each species. It assumes the complete number of chromosomes and the form and length of chromosome determined if as a succession and nature of the genes themselves. Genotype. Genetic constitution of each individual. Phenotype. Manifestation or expression of any of these genes producing physical, biochemical or physiological characteristics. Gametes. Reproductive cells (23 chromosomes).

Zygote. Fusion of two gametes. Fertilized egg (46 chromosomes). Homozygous. Individual who possesses two identical alleles. Black hair color black hair color Homozygous black hair. Heterozygosity. Individual with seven alleles. Brunette blond. Heterozygosity. DOMINANT ALELO. He who prevents the manifestation of another allele in the phenotype and manifests himself. RECESITIVE ALELO. The one who has a manifestation in phenotype hybridized by a dominant allele. It manifests itself in the recessive allele if the individual is homozygous with respect to that allele. Mutation. Change in genetic material, either in its structure or in the number of chromosomes. Genetic information is transmitted through REPLICATION. Inheritance. Transmission of characters appearing on the parents to their descendants. Inheritance Types: Depending on the nature of the chromosomes involved: AUTO-MICA; non-sexual chromosomes (22 pairs). GONOSAMIC; involved sex chromosomes (1 pair). Depending on genetic behavior: _ DOMINANT; _ RECESSIVE; DOMINANT AUTOSOMAL INHERITANCE. It must meet four criteria to be an autosothes-borne disease and behave dominantly: 1.- That the character appears in each generation. 2.- The sex of the new being does not influence the affectation. 3.- the person who does not carry the genetic alteration, do not transmit the character. 4.- The affected person broadcasts on average half of his offspring. The frequency of dominant alterations today decreases because families are smaller. The fewer children, the less likely they are. Individuals who are homozygous for alleles have a higher degree of expressiveness or penetrance of the characters. Expressiveness or penetrance is the variability of the

manifestation that a trait or genetic character may have. ( baldness, gout, are influenced by sex) GENETIC SEAL. Check that the expression of certain dominant autosomal characters varies depending on whether you inherited it from the parent. OSTEOGENESIS IMPERFECTA. Autosomal dominant disease. Mutable chromosome, the basic defect is unknown, the mother's advanced age is suspected. Early diagnosis can be detected before birth, on ultrasounds. The main characteristics are: excessive bone fragility, large head, prominence of the frontal and parietal area, which gives them a triangular face. Hypertrichosis (excess hair), eye disorders (myopia, exophthalms), auditory disturbances. The frequency is one in twenty-five thousand births. The prognosis is that many do not exceed breastfeeding if the degree of penetrance is high. Those who reach puberty tend to reduce the number of fractures. Treatment is done through genetic counseling, medical treatment (early intervention), pharmacological treatment, operations, surgery for malformations, orthopedics, physiotherapy, review of hearing and eye problems, speech therapy, psychomotricity, there will be no problems for the individual to be placed in an ordinary facility with accommodations, psychological support for parents and the child. Achondroplasia. Autosomal dominant disease, has an unknown origin, although the advanced age of the mother is assumed to increase it. In early diagnosis we will use an ultrasound. The main characteristics are disproportionate low size, (males do not exceed 1 x 31 cm and women 1 x 24 cm.) It is disproportionate to the areas near the trunk are shorter than the rest of the body, produced by the so-called duck gait. The head is large (macrocephaly) with bulging of the frontal area, cooing facial features, with sunken nasal root and pragmatism (overtaking of the lower jaw). Hearing problems, delayed psychomotor maturity, normal mental capacity, unable to fully stretch arms, hands are shaped like trident. The forecast is normal although the first three years of life there is accelerated growth of the head and the rhythm after normalizes. The frequency is one case for every twenty-five thousand. Treatment will be done through genetic counseling, medical treatment with orthopedics, surgery, hearing check- Educational treatment through psychomotor care (coordination), psychological support, in an ordinary center, helped with speech therapy. BRAQUIDACTILIA.

Autosomal dominant disease, has short fingers, may appear as a single symptom or as one more element within a clinical picture. Whenever there is bone mass through surgery it is possible to normalize both aesthetically and functionally the affected hand or foot. Syndactyly. No fingers. Polydactyly. More fingers than usual. RECESSIVE AUTO-MICAS DISEASE. For a disease to be classified as autosomal recessive it has to meet criteria:. Males and females are just as likely to be affected. Let the parents have bonds of inbreeding. Those concerned may only be the descendants of that couple's first subsidiary line. They can only be brothers. On average only a quarter of the offspring will be affected even if there are other brothers who carry it only. The study of these diseases is very complicated since only those pairs of heterozygous for affectation can be limited, while those who do not have affection go unnoticed in the general population. POSITIVE ALBINISM AND NEGATIVE ALBINISM. It's an autosomal recessive disease. There is a lack/decrease in pigmentation throughout the skin and hair due to a disability/distortion for pigmentation. There is a great deal of variability of cases. No freckles/ freckles exist. White hair. Lack / decrease of pigmentation in the eyes which makes according to the luminosity the iris translucent by that lack of pigmentation turn blue or gray. Myopia, lack of visual acuity. Binocular vision disturbances. Photophobia. The pronostic is that there are no variations in negative albinism, the level of pigmentation in the positive is given a pigment increase, thus improving above all the visual ability. The frequency is one case for every forty thousand births. In the black race one case is given for every fifteen thousand births. Medical treatment will be used based on medical advice, eye exam, dermatologist, psychological support, light situation in the classroom (shadows). They can not be in the sun in recess, a situation of gloom is favorable for them (visillos), we must avoid dark colors in the clothes, the cotton is very appropriate since it is very cool, colored lenses, eliminate unknowns in the classroom. CYSTIC FIBROSIS (MUCOVISCIDOSIS).

Autosomal recessive disease. There is an alteration in the production of bronchial exocrine secretions of sweat, duodenum, and pancreas. Higher viscosity of mucous membranes secreted by exocrine glands. Great variability in the degrees of expressiveness or penetrance. The main characteristics are that in babies can produce intestinal obstruction with the consequent malnutrition and dangerous dehydration. In male adults it can cause infertility by clogging the seerifer ousheer tubes and other ducts by the viscosity of the secretion. In adult women, no infertility has been reported. In children, the most common cause of death is pneumonia. One case is given for every two thousand births. He needs medical treatment. TAY-SACHS DISEASE. It's an autosomal recessive disease. Neurological and degenerative. The frequency is one for every three hundred and sixty thousand births, compared to one for every three thousand and six hundred births in the American Jewish population. The main feature is that children are born seemingly normal, then in childhood they suffer a crisis that is suffering with mental impairment, hearing loss and vision. They do not survive adolescence, they die taking the person to a vegetative state. ALCABTONURIA. Autosomal recessive disease, presence of a component in the urine called Alcabtona that causes urine in contact with air to turn black. Develops in a serious problem of accelerated osteoarthritis. INTERMEDIATE INHERITANCE. It occurs when an allele is partially expressed without following dominance or recessivity. These alleles are called "incomplete dominant alleles". An example of this is sickle cell sickle or sickle cell disease. It becomes latent with atmospheric changes. We must not confuse the intermediate inheritance with the codominance, that is, two alleles of a pair coexist in the same individual, manifesting both completely. (blood example AB). SEX-BOUND INHERITANCE. It is one that is transmitted through the genes located in the sex chromosomes. Genes linked to the X chromosome are called X-linked inheritance. Inheritance transmitted by the Y chromosome is called A-Linked Inheritance or Inheritance. In the human species the only alteration known to the Y chromosome is the hairy ear. So generally the expression inheritance linked to sex refers to the X chromosome. • DOMINANT: You must follow the following criteria: 1.- The affected males convey the character to all their daughters but to no son. 2.- Affected heterozygous females transmit the trait to half of their children from one sex to the other.

3.- In many traits that are transmitted dominantly by the X chromosome they have a higher frequency of women than of affected men although the degree of penetrance of these is lower than that of males. VITAMIN D RESISTANT RAQUITISM. It is a dominant disease linked to sex. The main characteristics are low size, in adulthood does not exceed 1'30- 1'60 cm, duck gait, abnormal widening of the wrists and ankles, tooth alterations, usually birth teeth late and fall off early. Genetic counseling, pharmacology medical treatment (vitamin d), surgery, orthopedics, educational psychomotor treatment and speech therapy, psychological support, and passive gymnastics are recommended for treatment. • SEX-DENED RECESSIVE HERENCIA: You must meet some criteria: The frequency must be higher in males than in women, the recessive character is never transmitted by the father to the male son. The character is transmitted by an affected father through his carrier but healthy daughters, to his male grandchildren. The male, for genes included in sex chromosomes, is neither homozygous nor heterozygous so any alteration in the X chromosome will manifest itself. It's homozygous. Hemophilia. Recessive disease due to sex. Lack of coagulation due to a deficit in antihemophilic globulin. It's controlled, even if you have to be careful with the wounds. Color blindness. Sex-linked recessive disease that affects the perception of colors. Several types, the most common are confused with red and green colors. It is also called partial color blindness. DUCHENNE MUSCULAR DISTROFIA. Sex-linked recessive disease, degenerative consisting of ascending muscular atrophy. A third of the cases are due to a new mutilation. The main characteristics are that the child begins to develop symptoms from the beginning of the walk, to end at the age of ten in a wheelchair. It starts in the lower extremities concluding in the upper area of the body. He is absent with no pain, there are alterations in sensitivity. Mental impairment has been reported in one third of cases. The gait is acquired late, there are problems of coordination, of duck running. Presence of early tiredness when climbing stairs. To reach the position of upfoot the affected child must perform an climb on himself, performing the support on his thighs to achieve the full extension of the back. The frequency is one case for every four thousand births. The prediction of survival is very mild, after twenty years. It's rare for him to survive at this age.

Treatment is done through genetic counseling, physiotherapy, early stimulation, sports (balance), sensory stimulation, language, psychomotority, psychological support. Depending on the degree of delay, a special education center will be desirable. Sex-influenced characters (manifested differently in women than in men) must be distinguished from those genetic characteristics linked to sex (those that only manifest themost in one sex and not in the other). ITEM 2. DISMETYMETIC HEREDOPATIAS. 1.- INTRODUCTION. The cellular life of our organism is maintained thanks to a series of biochemical processes, (chemical reactions of our organism), which together are called METABOLAMUS. The objectives of this infrastructure are three: Maintenance of life. Somatic growth. Reproduction of the individual. Those responsible for these processes are catalysts called "enzymes", they are genetically determined protein molecules that are synthesized in the cell. A genetic problem can determine an alteration in the enzyme and therefore produce a metabolic disease. These metabolic diseases are recessive in nature, the final effect will always be an inadequate amount of the affected enzyme, which in turn will also cause quantitative effects on other organic substances. There is a great diversity of systematic diseases due to the very many enzymes involved in human metabolism. These diseases have a cumulative effect so the deficit process is not usually detected until a few months after birth. During the gestation period, the mother transfers to the fetus those enzyme components that the child poses as deficits. When born thanks to the reserves provided by the mother, the child develops during the first months with total normality. When these enzymatic reserves run out, that's when the first symptoms of the disease begin to appear. 2.- DECRIMENTS DUE TO A CONGENITE ERROR IN THE METABOLISM OF THE GLACIAL. Glutides are carbohydrates and have an energy power, glucose, starch. Galactosemia: Autosomal recessive disease caused by a deficiency in the enzyme responsible for galactose metabolization. This enzyme is responsible for facilitating the transformation of galactose into glucose. Its deficit will cause an increase in levels tolerated by the body, an accumulation effect and a lower level of glucose. The deficit enzyme is called galactose 1 phosphate uridil transferase. The diagnosis will be made through the heel test that is currently implanted in all Spanish maternity wards to detect an enzyme deficit. This test that involves a blood test on your baby

replaces the previously performed enzymatic urine test that detected higher than normal levels of galactose in the urine. Milk intolerance is a symptom of disruption. The main characteristics are vomiting and diarrhoea, which cause weight loss, anemia and seizures of hypoglycemic origin. In 30% you are mentally retarded that can sometimes be profound. Cataracts develop in 50% of cases. Liver cirrhosis. They may present difficulties learning. Treatment requires lifelong dietary control by suppressing milk and other foods containing galactose. If treatment is early the child will be completely normal. Substitution of deficit through a laboratory-made enzyme. The frequency is one case for every forty thousand births. FRUCTOSEMIA: Autosomal recessive disease from enzyme insufficiency that prevents the metabolization of fructose and causes the non-release of glucose. Hypoglycemic picture occurs. Early diagnosis occurs in the face of the baby's revulsion in the face of the fruit, before the first fruit porridge, the child manifests vomiting and intestinal cramps that give the first voice of alarm. The main characteristics are with liver disorders, intellectual deficit, present a perfect denture despite the lack of glucose. The treatment will be done by a dietary control by removing sweets and fruits from the diet. Control must be permanent. Medication administering the enzyme deficit. GLUCOGENOSIS: Autosomal recessive disease characterized by the accumulation of glycogen in nerve cells and other tissues of the body due to an enzyme deficit. VON GIERICE'S DISEASE. Autosomal recessive disease that is assumed to deficiency the enzyme glucose 6 phosphatase in the liver, kidney and intestinal mucosa. Diagnosis can be prenatal by performing timely testing is only observable, only less growth at the end of breastfeeding is observable. The main features are characteristic facies that resembles the face of a rubens doll or figure. Limited growth, bulging in the abdominal area due to liver alterations, muscle hypotonia, propensity to infections, mental retardation. The forecast will depend on the treatment you receive for the numerous infections, especially in the first year of life, as well as the liver and kidney problems you present. POMPER DISEASE. Autosomal recessive disease caused by maltose deficiency, causing glycogen to accumulate.

The main characteristics is a normal aspect at birth but at the end of the first year of life a delay in psychomotor development, progressive muscle hypotonia, mental retardation and macrolosia is detected. ( Excessive language size ) . FORBES DISEASE. Autosomal recessive disease is cured with muscle hypotonia but does not occur with mental retardation. Treatment in all cases will replace the deficient enzyme as soon as possible. It will be pharmacological, in some cases you will put a diet. 3.- DECRIVES DUE TO ( GLUCOPOLISACARIDOSIS).

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MUCOPOLISACARTEDS.

Glucopolysaccharides are present in connective or connective tissues that are responsible for connecting other tissues to each other and to others supports different structures of the body. They are also present in the mucous membranes of the body. An error in the metabolism of glucopolysaccharides causes a buildup in the various organs and viscera affecting the nervous system. HUNTER Syndrome. The diagnosis is that the child is biochemically affected and can be detected with the corresponding test. From the very moment of birth. However clinically the symptoms do not appear until after the first year of the child's life. The features are si...