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OMIM Online Mendelian Inheritance of Man OMIM Online Mendelian baštine Man

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Searching OMIM Pretraživanje OMIM

Searching Online Mendelian Inheritance in Man (OMIM) Over the Internet Protocol Pretraživanje Online Mendelian baštine u Man (OMIM) Over Internet Protocol

OMIM database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information. OMIM baza podataka je katalog ljudskih gena i genetski poremećaji authored i edited by Dr. Victor A. McKusick i njegove kolege na Johns Hopkins i drugdje, a razvijena za World Wide Web by NCBI, Nacionalni centar za Biotechnology Information. The database contains textual information and references. Baza podataka sadrži tekstualne informacije i reference. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources at NCBI and elsewhere. Ona također sadrži bogat linkove na MEDLINE i slijed evidencije u sustavu Entrez, i linkovima na dodatne Povezani resursi na NCBI i drugdje.

OMIM may be accessed directly from the NCBI home page (http://www.ncbi.nlm.nih.gov) by clicking on the OMIM link in the blue bar at the top of the page. OMIM svibanj se pristupiti direktno iz NCBI home page (http://www.ncbi.nlm.nih.gov) tako da kliknete na link OMIM u plavoj traci na vrhu stranice.

I will describe to you on how to access the Web site and enter search terms to retrieve OMIM records. Ja ću vam opisati o tome kako pristupiti web-stranicu i unesite uvjete pretraživanja za pronalaženje OMIM zapisa. I then briefly review the format of an OMIM record and guide the user through the numerous hyperlinks that are available. I onda kratko pregled format OMIM jedan rekord i voditi korisnika kroz brojne hiperlinkova koji su dostupni.

**Note that "synuclein" will be the term used as an example throughout this protocol.** ** Napomena da je "synuclein" će biti izraz koji se koristi kao primjer u cijeloj ovoj protokol .**

Performing an OMIM search Izvođenje jedne OMIM pretraživanje

1. Open the browser and go to the NCBI home page (http://www.ncbi.nlm.nih.gov). Otvorite preglednik i idite na početnu stranicu NCBI (http://www.ncbi.nlm.nih.gov).

2. Change the search pull-down from GenBank to OMIM. Promijenite pretraživanje padajući iz GenBank da OMIM. Enter the search term or terms into the text box, which may be coupled by Boolean operators such as "AND," "OR," or "NOT." Upišite traženi pojam ili pojmove u okvir za tekst, koji svibanj biti popraćena od strane Boolean operatore kao što su "I", "ILI", ili "ne". Each search term can, in turn, be qualified so that it is compared only to particular parts of the OMIM record. Svaki search term može, zauzvrat, biti osposobljen, tako da je u odnosu samo na određeni dio dana OMIM rekord. Once you have entered the search terms, submit the search by pressing the Go button, or by hitting Enter on the keyboard. Nakon što ste upisali pojam koji tražite, pošaljite pretraživanje pritiskom na gumb "Idi, ili pritiska tipke Enter na tipkovnici.

3. Select the OMIM entry of interest by clicking on the corresponding OMIM accession number. Odaberite OMIM ulazak u interesu tako da kliknete na odgovarajuću OMIM pristupnog broja. For this example, access the detailed OMIM entry for alpha-synuclein by clicking on the hyperlinked accession number (*163890). Za ovaj primjer, pristup detaljnim OMIM za unos alfa-synuclein klikom na hiperveza pristupanja broj (163890 *).

4. Select how to view the OMIM entry. Odaberite kako želite pogledati OMIM unos. The pull-down menu beside the Display button will allow the user to change between views; once the desired view is selected from the pull-down menu, the user should then click Display. U padajućem izborniku pored Prika i gumb će omogućiti korisniku da promijeni između pregleda; jednom željeni pogled je odabrana iz padajućeg izbornika, korisnik bi onda kliknite na Prikaz. The default display is Detailed. Zadana je Detaljni prikaz. Each of the options, but not all options will be available for each OMIM entry. Svaka od opcija, ali ne i sve opcije koje će biti dostupne za svaku OMIM unos. The user will immediately notice that there is some redundancy built into the OMIM interface, in that certain pieces of information can be found in more than one way. Korisnik će odmah primjetiti da postoji neki zalihosti ugrađene u OMIM sučelje, da u određene dijelove informacije mogu se naći u više od jednog puta. A complete description of the detailed OMIM record can be found. Potpuni opis, detaljan OMIM bilježi se mogu naći.

5. From the detailed view of the entry, click on the Gene map locus 4q21 link that appears beneath the alternate titles and symbols near the top of the OMIM record (or on the hyperlink marked Gene Map in the navigation bar on the left-hand side of the page). Od detaljan pogled na ulazak, kliknite na gensku kartu umjesto 4q21 link koji se pojavljuje ispod naslova alternativni i simbole pri vrhu, OMIM zapis (ili na hipervezu označena Gene Karta u navigacijskoj traci na lijevoj strani stranice). The OMIM Gene Map presents the cytogenetic locations of the genes described in OMIM having a published map location. The OMIM Gene Karta predstavlja citogenetika lokacije gena opisane u OMIM vlasništvo objavljeno map lokaciju. The list begins at the p telomere of chromosome 1 and continues through to the q telomere of chromosome 22. Lista počinje na p telomere od kromosoma 1 i nastavlja putem do q telomere od kromosom 22. This is then followed by the genes found on the X and Y chromosomes. Ovo je onda nakon toga gena pronađene na X i Y kromosoma. The header at the top of the table gives the details of the gene range displayed in the chart, as well as the cytogenetic range displayed in the chart. U zaglavlje na vrhu tablice daje details od gena raspon prikazan u grafikon, kao i citogenetika spektar prikazan u grafikon. For display purposes, the genes are shown in groups of 20. Za prikaz svrhe, geni su prikazani u grupama od 20. When the gene shares the same cytogenetic location as another gene, they are sorted by primary symbol. Kada gena dijeli isti citogenetika lokaciji kao i druga gena, oni su razvrstani po primarni simbol. When there is only a chromosomal location and no cytogenetic band location, the gene is listed at the end of the chromosome. Kada postoji samo jedna lokacija i kromosomske ne citogenetika Band lokaciji, gena je navedena na kraju je kromosom. In this case, the table begins with the SNCA gene, and its cytogenetic location is listed as 4q21. U tom slučaju, tablice počinje s SNCA gena, i njene citogenetika lokacija je na popisu 4q21. The table will always begin with the gene from which the OMIM gene map was accessed. Tablica uvijek će početi s gene iz koje je OMIM genska karta je pogledana.

6. From the OMIM Gene Map page, one can link to the OMIM Morbid map by clicking on the link at the top of the page. Od OMIM Gene Karta stranica, može se povezati na OMIM patološki sajta klikom na link na vrhu stranice. The basic feature that differentiates the Morbid Map from the Gene Map is that the Morbid Map presents all listed genes in alphabetical rather than chromosomal order. Osnovna značajka da je bolestan differentiates Map iz Gene Karta je da je bolestan Karta prikazuje sve navedene gena u abecedni nego kromosomske poretka. OMIM hyperlinks available to the left of an OMIM record OMIM hiperveza dostupna na lijevo od jedne OMIM rekord

7. Return to the page showing the Display view for the synuclein entry by clicking the back button twice from the Morbid Map page. Povratak na stranicu koja prikazuje pogled Display za synuclein unos klikom na tipku Back dva puta iz patološki Karta stranica. In the left-hand frame, there are multiple hyperlinks that allow the user to easily navigate through the detailed OMIM record. U lijevom rukom okvira, postoji više hiperveza koje dopuštaju korisniku da lako navigirati kroz detaljan OMIM rekord. Specifically, the links take users to the Description, Cloning, Gene Function, Mapping, Molecular Genetics, Animal Model, Allelic Variants, References, Contributors, Creation Date, and Edit History sections of the record. Naime, veza potrajati korisnici na opis, Klon, Gene Function, kartografija, molekularnu genetiku, animalni model, Allelic Verzije, Reference, priloga, datumu izrade i Uredi poglavlja u zapisu. A View List link just beneath the Allelic Variants link takes users to a list of allelic variants, rather than a detailed description of the variants. Pogled Popis poveznica samo pod Allelic Verzije link vodi korisnike na popis allelic varijanti, nego detaljan opis i varijante.

8. The Gene map link offers users another route to the OMIM gene map The Gene map link pruža korisnicima još jedan put na OMIM gene map

9. Beneath the Gene map link is a hyperlink labeled LocusLink. Ispod je link za gensku kartu hipervezu etiketom LocusLink. Clicking on this link brings the user to the relevant LocusLink page on the NCBI Web site. Klikom na ovaj link donosi korisnika na koje se odnosi LocusLink stranicu na NCBI web-mjestu. LocusLink provides a single query interface to various types of information regarding a given genetic locus, such as phenotypes, map locations, and homologies to other genes. LocusLink pruža jedinstveno sučelje upit za razne vrste informacija u vezi s određenom genetski mjesto, kao što su phenotypes, map lokacije i homologies na druge gena. The LocusLink search space currently includes information from humans, mice, rats, fruit flies, and zebrafish. The LocusLink pretraživanje prostora trenutno sadrži informacije od ljudi, miševi, štakori, voćnih mušica, i zebrafish.

10. Return to the page showing the Display view for the synuclein entry. Povratak na stranicu koja prikazuje pogled Display za synuclein unos.

11. At the bottom of the left-hand frame, there is a hyperlink labeled LinkOut. Na dnu se lijeve strane okvira nalazi se hiperveza etiketom LinkOut. Clicking on this link brings the user to the LinkOut resources . Klikom na ovaj link donosi korisnika na LinkOut resursa. LinkOut is an NCBI utility that is designed to provide users direct connections to a wide variety of relevant external online resources, including full-text publications, biological databases, consumer health information, research tools, and more. LinkOut je NCBI uslužni program koji je osmišljen kako bi korisnicima pružati izravne veze na široku paletu relevantne vanjske online resursa, uključujući i full-text publikacije, biološke baze podataka, potrošačke zdravstvene informacije, razvojnih alata, i više. The resulting links are grouped into three categories: medical, molecular biology databases, and "other." Dobit veze se grupiraju u tri kategorije: medicinski, molekularna biologija baze podataka, i "ostali".

a. Medical databases: Medicinske baze podataka:

NCBI's Genes and Diseases. NCBI's gena i bolesti. NCBI's Genes and Diseases database is an extremely useful database for physicians, researchers and scientists alike. NCBI's gena i bolesti baza podataka je izuzetno korisna baza podataka za liječnika, znanstvenika i istraživača pod istim uvjetima. This database is part of an ongoing effort to map and characterize diseases caused by the mutation in one gene or a result of mutations in several genes such as asthma and diabetes. Ova baza podataka je dio jednog stalnog napora da map i karakterizirati bolesti uzrokovane genske mutacije u jednom ili rezultat mutacije u nekoliko gena, kao što su astma, dijabetes. The Genes and Disease site linked to from the SNCA entry in OMIM is made up of two sections. Gena i bolesti povezanih na site od SNCA ulazak u OMIM se sastoji od dva odjeljka. The first section of note is located in the large middle panel containing an overview of the disease. Prvi dio primjetite se nalazi u velikoj sredini ploče sadrži pregled bolesti. The second section, on the left, contains additional links to information on SNCA and Parkinson's Disease. Drugi dio, na lijevoj strani, sadrži linkove na dodatne informacije o SNCA i Parkinsonova bolest. The most relevant source of information from a clinical standpoint is found in the Information subsection, towards the bottom of the left-hand sidebar. Najrelevantniji izvor informacija iz kliničkog gledišta nalazi se u potpoglavlju Informacije, prema dnu se lijeve sidebar. This section includes links to general information for clinicians, physicians and patients. Ovo poglavlje uključuje veze na općenite informacije za klinicara, liječnika i pacijenata. It also includes the Medline Plus feature which when selected provides a link to the Clinical Trials page. Ona također uključuje MEDLINE plus kad odabrali značajku koja nudi link na stranicu Clinical Trial.

b. Molecular biology databases: Molekularna biologija baze podataka:

Genome Database. Genome Database. The Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. The Genome Database (GDB) je službeni centar sklonište za genocid mapiranje podataka rezultat je ljudski genom Initiative. The Human Genome Initiative is a worldwide research effort to analyze the structure of human DNA and determine the location and sequence of the human genes. The Human Genome Inicijativa je diljem svijeta istraživački napor za analizu strukture ljudskog DNA i odrediti lokaciju i slijed ljudskih gena. In support of this project, GDB stores and curates data generated worldwide by those researchers engaged in the mapping effort of the Human Genome Project (HGP). U potporu ovom projektu, GDB i curates pohranjuje podatke generirane u svijetu od onih istraživača koji rade na mapiranje napora u ljudski genom Project (HGP). The Synuclein link to GDB displays all the information stored from GDB on SNCA (not shown). The Synuclein link na GDB prikazuje sve podatke pohranjene od GDB na SNCA (nije prikazano). The information displayed comprises alternate gene symbols, the cytogenetic location of the gene and the resource used to map it, nucleic acid links for the SNCA gene, protein links for the SNCA gene, related amplimers and clones, polymorphisms, clones, phenotype and homology links, and additional external links. Informacije prikazane su uključeni alternativni gena simbola, citogenetika lokaciji od gena i resursa koristi za karte, nucleic acid linkovi za SNCA gena, proteina veze za SNCA gena, povezanih amplimers i klonovi, polimorfizmi, klonovi, fenotip homologija i linkovi , I dodatne vanjske poveznice.

Cardiff Human Gene Mutation Database. Cardiff Human Gene mutation Database. The Cardiff Human Gene Mutation Database (HGMD) site represents an attempt to collate known published gene lesions responsible for human inherited diseases into a comprehensive reference source. U Cardiff Human Gene mutation Database (HGMD) predstavlja pokušaj usporediti poznat objavljeno lezije gena odgovornih za ljudska naslijedio bolesti u sveobuhvatan izvor podataka. The Cardiff Human Gene Mutation Database provides information of practical diagnostic importance to researchers and diagnosticians in human molecular genetics, physicians interested in a particular inherited condition in a given patient or family, and genetic counselors. U Cardiff Human Gene mutation Baza podataka pruža informacije od praktične dijagnostičke važnosti za istraživače i diagnosticians u ljudske molekularne genetike, liječnika zainteresirani za određenu naslijedila stanje u određenom pacijentu ili obitelji, i genetski savjetnike. For SNCA, the database documents two nonsense mutations, which contribute to Parkinson disease. Za SNCA, baza dokumenata dvije sitnice mutacije, koje doprinose Parkinsonova bolest. The Web site also offers hyperlinks to mutation maps, the cDNA native sequence, and the SNCA entries in the genome database (GDB), GenAtlas, and OMIM. The Web stranica također nudi hiperveza do mutacije maps, cDNA native sequence, i SNCA unose u genom baza podataka (GDB), GenAtlas, i OMIM.

c. Other databases: Ostale baze podataka:

Jackson Laboratory Mouse Genome Database. Jackson Laboratorij Mouse Genome Database. The Jackson Laboratory Mouse Genome Database includes data on gene characterization and nomenclature, mapping, gene homologies among mammals, sequence links, phenotypes, allelic variants and mutants, and strain data. The Jackson Laboratorij Mouse Genome Database sadrži podatke o genska karakterizacija i nomenklatura, mapiranje, gene homologies među sisavcima, slijed linkova, phenotypes, allelic varijante i mutante, strain podataka. The Mouse Genome Database provides chromosomal location, alternate names, polymorphism information, and mammalian homologies of the gene in the OMIM database. The Mouse Genome Database osigurava kromosomske lokaciji, alternativni nazivi, polimorfizam informacije, i sisavaca homologies od gena u OMIM baza podataka.