Non-Mendelian Inheritance.Pdf

Total Page：16

File Type：pdf, Size：1020Kb

Why are only female cats calico? This is when both genes are dominant, so the presence of both alleles you will see they are both fully expressed. IAIA or IAi= A type IAIB = AB type IBIB or IBi = B type ii = O type Neither of the genes is dominant to the other, so the heterozygous genotype creates a 3rd phenotype. The two phenotypes are blended. Roan Horse Which is an example of incomplete dominance and which is an example of codominance? Most traits in humans are not controlled by only 1 gene. There are many genes that contribute to a single trait. Eye color Hair color • A modifier gene controls another gene. • Not dominant, because it is not on the same gene, but will still override whatever gene it is the modifier for. Heterochromia iridum Eye color is an example of a polygenic trait and Albinism is an example of a blocked trait. How is eye color determined? How is whether or not an organism will be albino determined? Some traits are carried on the sex chromosomes. Women have XX and men have XY. If a trait is carried on the X chromosome then women have two of them and men only have one. hemophilia Muscular dystrophy An example of this is color blindness Ex: Red/green color blindness is a recessive trait carried on the X chromosome. Men can have either XBY or XbY If he has XBY he is not color blind (the big B stands for the dominant trait of not color blind) If he has XbY he is colorblind. Because this trait is not carried on the Y chromosome there is no opportunity to be heterozygous for males. Women can have XBXB, XBXb, or XbXb If she has XBXB, she is not color blind If she has XBXb, she is not color blind (the B is dominant to the b so this woman is a just a carrier of the trait) If she has XbXb, then she is colorblind. A woman has the genotype XbXb and a man has the genotype XbY . Are either of them colorblind? Yes both because they each have the recessive alleles (b) for them. If these two individuals had children what is the likelihood that their children would be colorblind? 100% This is why there are many more males that are color blind than females. Calico coloration Male Pattern Baldness.

Copy Link

Recommended publications

Ophthalmic Pathologies in Female Subjects with Bilateral Congenital Sensorineural Hearing Loss
Turkish Journal of Medical Sciences Turk J Med Sci (2016) 46: 139-144 http://journals.tubitak.gov.tr/medical/ © TÜBİTAK Research Article doi:10.3906/sag-1411-82 Ophthalmic pathologies in female subjects with bilateral congenital sensorineural hearing loss 1, 2 3 4 5 Mehmet Talay KÖYLÜ *, Gökçen GÖKÇE , Güngor SOBACI , Fahrettin Güven OYSUL , Dorukcan AKINCIOĞLU 1 Department of Ophthalmology, Tatvan Military Hospital, Bitlis, Turkey 2 Department of Ophthalmology, Kayseri Military Hospital, Kayseri, Turkey 3 Department of Ophthalmology, Faculty of Medicine, Hacettepe University, Ankara, Turkey 4 Department of Public Health, Gülhane Military Medical School, Ankara, Turkey 5 Department of Ophthalmology, Gülhane Military Medical School, Ankara, Turkey Received: 15.11.2014 Accepted/Published Online: 24.04.2015 Final Version: 05.01.2016 Background/aim: The high prevalence of ophthalmologic pathologies in hearing-disabled subjects necessitates early screening of other sensory deficits, especially visual function. The aim of this study is to determine the frequency and clinical characteristics of ophthalmic pathologies in patients with congenital bilateral sensorineural hearing loss (SNHL). Materials and methods: This descriptive study is a prospective analysis of 78 young female SNHL subjects who were examined at a tertiary care university hospital with a detailed ophthalmic examination, including electroretinography (ERG) and visual field tests as needed. Results: The mean age was 19.00 ± 1.69 years (range: 15 to 24 years). A total of 39 cases (50%) had at least one ocular pathology. Refractive errors were the leading problem, found in 35 patients (44.9%). Anterior segment examination revealed heterochromia iridis or Waardenburg syndrome in 2 cases (2.56%).
[Show full text]
Color Blindness LEVELED BOOK • W a Reading A–Z Level W Leveled Book Word Count: 1,349 Color Blindness Connections Writing Choose Two Forms of Color Blindness
Color Blindness LEVELED BOOK • W A Reading A–Z Level W Leveled Book Word Count: 1,349 Color Blindness Connections Writing Choose two forms of color blindness. Write a report that compares the two conditions and their effects on a person’s life. Math Research the statistics about the number of people with the various forms of color blindness in your country. Organize your results in a pie chart. • W Q •T Written by Cheryl Reifsnyder Visit www.readinga-z.com for thousands of books and materials. www.readinga-z.com Words to Know Color ancestry molecules complementary photopigments cone cells prism Blindness defects retina genetic disorder rod cells hereditary wavelengths Photo Credits: Front cover, Back cover: © pretoperola/123RF; title page (Both): © shironosov/ iStock/Thinkstock; page 3: © Véronique Burger/Science Source; page 4 (Both): © Michael Shake/Dreamstime.com; page 5: © Designua/Dreamstime.com; page 6 (top): © Gunilla Elam/Science Source; page 6 (Bottom): © Steve Gschmeissner/Science Source; page 7 (Both): © Ted Kinsman/ Science Source; page 8 (left, Both): © anatchant/iStock/Thinkstock; page 8 (center, Both): © Nadezhda Bolotina/Hemera/Thinkstock; page 8 (right, Both): © iremphotography/iStock/Thinkstock; page 9 (all): © Popartic/iStock Editorial/Thinkstock; page 10: © RVN/Alamy Stock Photo; page 12: © Alexander Kaludov/123RF; page 13: © EnChroma; page 14: © Neitz LaBoratory; page 15: © Phanie/Alamy Stock Photo Written by Cheryl Reifsnyder www.readinga-z.com Focus Question Color Blindness Level W Leveled Book Correlation © Learning A–Z LEVEL W Written By Cheryl Reifsnyder What causes color blindness, and how Fountas & Pinnell S can it affect a person’s life? All rights reserved.
[Show full text]
RETINAL DISORDERS Eye63 (1)
RETINAL DISORDERS Eye63 (1) Retinal Disorders Last updated: May 9, 2019 CENTRAL RETINAL ARTERY OCCLUSION (CRAO) ............................................................................... 1 Pathophysiology & Ophthalmoscopy ............................................................................................... 1 Etiology ............................................................................................................................................ 2 Clinical Features ............................................................................................................................... 2 Diagnosis .......................................................................................................................................... 2 Treatment ......................................................................................................................................... 2 BRANCH RETINAL ARTERY OCCLUSION ................................................................................................ 3 CENTRAL RETINAL VEIN OCCLUSION (CRVO) ..................................................................................... 3 Pathophysiology & Etiology ............................................................................................................ 3 Clinical Features ............................................................................................................................... 3 Diagnosis .........................................................................................................................................
[Show full text]
Genes in Eyecare Geneseyedoc 3 W.M
Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
[Show full text]
OCULAR GENE THERAPY TRIALS ADVANCE Results of the First Phase 3 Trial Were Announced
OCULAR GENE THERAPY TRIALS ADVANCE Results of the first phase 3 trial were announced. BY ARON SHAPIRO INNOVATIONS IN RETINA INNOVATIONS “We used to think that our fate was in our AAV FACILITATES GENE DELIVERY stars, but now we know that, in large measure, The nonpathogenic adeno-associated virus (AAV) has our fate is in our genes.” to date been a safe and effective vector for gene delivery. –James Watson1 The recombinant AAV (rAAV) vector has demonstrated increased specificity and efficiency in ocular AAV-mediated Genetic alterations are known to be respon- gene therapy interventions. Recombinant AAV2 (rAAV2) sible for numerous diseases, and so it follows vectors used for gene therapy are derived from the wild-type logically that the best cures for these diseases virus by deleting the entire viral coding region and replac- might lie in correcting genetic anomalies by the process of ing it with the reporter or therapeutic transgene. Combined gene therapy. This approach involves the introduction of AAV serotypes have also been developed. This diversity genes into existing cells in attempts to prevent or cure a of serotypes may lead to more specific and more efficient wide range of diseases previously thought to be incurable.1 transduction. However, successful and efficient transfection Posterior segment disorders are challenging to treat, and of particular cell types in the eye still depends on other fac- current therapies have numerous shortcomings. Many are tors, such as the AAV titer, the site of injection, the amount invasive, run the risk of complications, offer only short-term of passenger DNA, and the specific gene promoters where relief from symptoms, or are unable to directly treat vision transcription initiation takes place.2 loss.
[Show full text]
Colour Vision Deficiency
Eye (2010) 24, 747–755 & 2010 Macmillan Publishers Limited All rights reserved 0950-222X/10 $32.00 www.nature.com/eye Colour vision MP Simunovic REVIEW deficiency Abstract effective "treatment" of colour vision deficiency: whilst it has been suggested that tinted lenses Colour vision deficiency is one of the could offer a means of enabling those with commonest disorders of vision and can be colour vision deficiency to make spectral divided into congenital and acquired forms. discriminations that would normally elude Congenital colour vision deficiency affects as them, clinical trials of such lenses have been many as 8% of males and 0.5% of femalesFthe largely disappointing. Recent developments in difference in prevalence reflects the fact that molecular genetics have enabled us to not only the commonest forms of congenital colour understand more completely the genetic basis of vision deficiency are inherited in an X-linked colour vision deficiency, they have opened the recessive manner. Until relatively recently, our possibility of gene therapy. The application of understanding of the pathophysiological basis gene therapy to animal models of colour vision of colour vision deficiency largely rested on deficiency has shown dramatic results; behavioural data; however, modern molecular furthermore, it has provided interesting insights genetic techniques have helped to elucidate its into the plasticity of the visual system with mechanisms. respect to extracting information about the The current management of congenital spectral composition of the visual scene. colour vision deficiency lies chiefly in appropriate counselling (including career counselling). Although visual aids may Materials and methods be of benefit to those with colour vision deficiency when performing certain tasks, the This article was prepared by performing a evidence suggests that they do not enable primary search of Pubmed for articles on wearers to obtain normal colour ‘colo(u)r vision deficiency’ and ‘colo(u)r discrimination.
[Show full text]
Causes of Heterochromia Iridis with Special Reference to Paralysis Of
CAUSES OF HETEROCHROMIA IRIDIS WITH SPECIAL REFER- ENCE TO PARALYSIS OF THE CERVICAL SYMPATHETIC. F. PHINIZY CALHOUN, M. D. ATLANTA, GA. This abstract of a candidate's thesis presented for membership in the American Ophthal- mological Society, includes the reports of cases, a general review of the literature of the sub- ject, the results of experiments, and histologic observations on the effect of extirpation of the cervical sympathetic in the rab'bit, the conclusions reached from the investigation, and a bib- liography. That curious condition which con- thinks that the word hetcrochromia sists in a difference in the pigmentation should apply to those cases in which of the two eyes, is regarded by the parts of the same iris have different casual observer as a play or caprice of colors. In those cases where a cycli- nature. This phenomenon has for cen- tis accompanies the iris decoloration, turies been noted, and was called hcte- Butler8 uses the term "heterochromic roglaucus by Aristotle1. One who cyclitis," but the "Chronic Cyclitis seriously studies the subject, is at once with Decoloration of the Iris" as de- impressed with the complexity of the scribed by Fuchs" undoubtedly gives a situation, and soon learns that nature more accurate description of the dis- plays a comparatively small part in its ease, notwithstanding its long title. causation. It is however only within The commonly accepted and most uni- a comparatively recent time that the versally used term Hetcrochromia Iri- pathologic aspect has been considered, dis exactly expresses and implies the and in this discussion I especially wish picture from its derivation (irtpoa to draw attention to that part played other, xpw/xa) color.
[Show full text]
Congenital Or Acquired Color Vision Defect – If Acquired What Caused It?
Congenital or Acquired Color Vision Defect – If Acquired What Caused it? Terrace L. Waggoner O.D. 3730 Tiger Point Blvd. Gulf Breeze, FL 32563 [email protected] Course Handout AOA 2017 Conference: I. Different types of congenital colorblindness. A. Approximately 8% of the population has a congenital color vision deficiency. B. Dichromate 1. Protanopia is a severe type of color vision deficiency caused by the complete absence of red retinal photoreceptors (L cone absent). 2. Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent (M cone absent). 3. Tritanopia is a very rare color vision disturbance in which there are only two cone pigments present and a total absence of blue retinal receptors (S cone absent). It is related to chromosome 7. C. Anomalous Trichromate 1. Protanomaly is a mild color vision defect in which an altered spectral sensitivity of red retinal receptors (closer to green receptor response) results in poor red–green hue discrimination. 2. Deuteranomaly, caused by a similar shift in the green retinal receptors, is by far the most common type of color vision deficiency, mildly affecting red–green hue discrimination in 5% males. 3. Tritanomaly is a rare, hereditary color vision deficiency affecting blue–green and yellow–red/pink hue discrimination. D. Rates of color blindness 1. Dichromacy Males 2.4% Females .03% a. Protanopia (red deficient: L cone absent) Males 1.3% Females 0.02% b. Deuteranopia (green deficient: M cone absent) Males 1.2% Females 0.01 c. Tritanopia (blue deficient: S cone absent) Males 0.001% Females 0.03% 2.
[Show full text]
Textbook of Ophthalmology, 5Th Edition
Textbook of Ophthalmology Textbook of Ophthalmology 5th Edition HV Nema Former Professor and Head Department of Ophthalmology Institute of Medical Sciences Banaras Hindu University Varanasi India Nitin Nema MS Dip NB Assistant Professor Department of Ophthalmology Sri Aurobindo Institute of Medical Sciences Indore India ® JAYPEE BROTHERS MEDICAL PUBLISHERS (P) LTD. New Delhi • Ahmedabad • Bengaluru • Chennai Hyderabad • Kochi • Kolkata • Lucknow • Mumbai • Nagpur Published by Jitendar P Vij Jaypee Brothers Medical Publishers (P) Ltd B-3 EMCA House, 23/23B Ansari Road, Daryaganj, New Delhi 110 002 I ndia Phones: +91-11-23272143, +91-11-23272703, +91-11-23282021, +91-11-23245672 Rel: +91-11-32558559 Fax: +91-11-23276490 +91-11-23245683 e-mail: [email protected], Visit our website: www.jaypeebrothers.com Branches 2/B, Akruti Society, Jodhpur Gam Road Satellite Ahmedabad 380 015, Phones: +91-79-26926233, Rel: +91-79-32988717 Fax: +91-79-26927094, e-mail: [email protected] 202 Batavia Chambers, 8 Kumara Krupa Road, Kumara Park East Bengaluru 560 001, Phones: +91-80-22285971, +91-80-22382956, 91-80-22372664 Rel: +91-80-32714073, Fax: +91-80-22281761 e-mail: [email protected] 282 IIIrd Floor, Khaleel Shirazi Estate, Fountain Plaza, Pantheon Road Chennai 600 008, Phones: +91-44-28193265, +91-44-28194897 Rel: +91-44-32972089, Fax: +91-44-28193231, e-mail: [email protected] 4-2-1067/1-3, 1st Floor, Balaji Building, Ramkote Cross Road Hyderabad 500 095, Phones: +91-40-66610020, +91-40-24758498 Rel:+91-40-32940929 Fax:+91-40-24758499, e-mail: [email protected] No. 41/3098, B & B1, Kuruvi Building, St.
[Show full text]
University Microfilms
INFORMATION TO USERS This dissertation was produced from a microfilm copy of the original document. While the most advanced technological means to photograph and reproduce this document have been used, the quality is heavily dependent upon the quality of the original submitted. The following explanation of techniques is provided to help you understand markings or patterns which may appear on this reproduction. 1. The sign or "target" fo r pages apparently lacking from the document photographed is "Missing Page(s)", If it was possible to obtain the missing page(s) or section, they are spliced into the film along with adjacent pages. This may have necessitated cutting thru an image and duplicating adjacent pages to insure you complete continuity. 2. When an image on the film is obliterated with a large round black mark, it is an indication that the photographer suspected that the copy may have moved during exposure and thus cause a blurred image. You will find a good image of the page in the adjacent frame. 3. When a map, drawing or chart, etc., was part of the material being photographed the photographer followed a definite method in "sectioning" the material. It is customary to begin photoing at the upper left hand corner of a large sheet and to continue photoing from left to right in equal sections with a small overlap. If necessary, sectioning is continued again — beginning below the first row and continuing on until complete. 4. The majority of users indicate that the textual content is of greatest value, however, a somewhat higher quality reproduction could be made from "photographs" if essential to the understanding of the dissertation.
[Show full text]
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders
G C A T T A C G G C A T genes Review Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders Maureen Neitz * and Jay Neitz Department of Ophthalmology and Vision Science Center, University of Washington, Seattle, WA 98109, USA; [email protected] * Correspondence: [email protected]; Tel.: +1-206-543-7998 Abstract: Light absorption by photopigment molecules expressed in the photoreceptors in the retina is the ﬁrst step in seeing. Two types of photoreceptors in the human retina are responsible for image formation: rods, and cones. Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color vision. Furthermore, they are critically important in the visual feedback mechanism that regulates refractive development of the eye during childhood. The human retina contains a mosaic of three cone types, short-wavelength (S), long-wavelength (L), and middle-wavelength (M) sensitive; however, the vast majority (~94%) are L and M cones. The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones. Diverse haplotypes of exon 3 of the OPN1LW and OPN1MW genes arose thru unequal recombination mechanisms that have intermixed the genes. A subset of the haplotypes causes exon 3- skipping during pre-messenger RNA splicing and are associated with vision disorders. Here, we review the mechanism by which splicing defects in these genes cause vision disorders. Citation: Neitz, M.; Neitz, J.
[Show full text]
January- March, 2013.Indd
Case Report Delhi Journal of Ophthalmology Iridotomy in Pigmentary Glaucoma - ASOCT perspective Prakash Agarwal1 MD, VK Saini1 MS, Saroj Gupta1 MS, Anjali Sharma1 MS, Reena Sharma2 MD, Tanuj Dada2 MD Abstract A pigmentary glaucoma is a form of secondary open angle glaucoma caused by pigment liberated from the posterior iris surface in pa ents with pigment dispersion syndrome. The pigment cells slough off from the back of the iris due to its concave confi gura on causing it to rub against the zonules and lens. These pigment cells accumulate in the anterior chamber in such a way that it begins to clog the trabecular meshwork causing eleva on of intraocular pressure. Anterior segment op cal coherence tomography (ASOCT) is a non contact, easy to use, reproducible method for examina on of the anterior segment. It allows detailed evalua on of the cornea, the angle of eye and the iris. It has extensively been used to evaluate angle closure glaucoma. It can also be used in cases of pigmentary glaucoma. We present a male, myopic pa ent with advanced stage of pigmentary glaucoma at a rela vely young age. We used ASOCT to demonstrate the concave iris confi gura on in our pa ent and its disappearance following laser iridotomy. We thus highlight the importance of use of ASOCT in pa ents of pigmentary glaucoma Del J Ophthalmol 2012;23(3):203-206. Key Words: pigmentry glaucoma, ASOCT, laser iridotomy DOI: h p://dx.doi.org/10.7869/djo.2012.70 The relationship of pigment and glaucoma was fi rst There is only one study evaluating the role of ASOCT in given by von Hippel in the 20th century.1 The modern assessing the anterior chamber parameters in pigmentary concept of pigmentary glaucoma was conceived by Sugar in glaucoma.6 However, there is no study, using ASOCT, 1940 when he described pigment dispersion and glaucoma documenting the iris changes after iridotomy in these in a 29 year old man.2 The term “Pigment glaucoma” was patients.
[Show full text]