 All about Genetics
All About Genetics Aap apnay family tree k baray me kiya jaanti hen?kiya aap k kisi relative ko koi health problem hai jo k family me chal rahi ho?jin problems ne aap k parents aur aap k grandparents ko affect kiya ho?jinhoon ne aap ko aur aaap k brother sisters ko ab affect kiya ho?jin problems ko aap apnay children me pass ker sakti hen? Thanks ko advance medical researches,ab doctor k pass aisay tools hen jin se wo sumajh sakain k kaisay kuch khaas illnesses aur un illnesses k risks generation to generation pass hotay hen.yahaan genetics k kuch basis likhay hen. Genes and Chromosomes Her person ka unique blueprints ka chemical set hoota hai jis se paata chalta hai k uss person ki body kaisi dekhti hai aur wo kaisay function kerti hai.ye blueprints aik complex chemical per moshtamil hootay hen jin ko deoxyribonucleic acid(DNA) kahtay hen,ye aik long spiral shaped molecule hoota hai jo k body k her cell me paaya jaata hai.Dna me genetic information k codes hootay hen aur ye linked sub units se bunnta hai jis ko nucleotides kahtay hen.her nucleotide me aik phosphate group,aik sugar molecule(deoxyribose),aur 4 me se aik coding molecule jin ko bases(adenine, guanine, cytosine, or thymine) kahtay hen hootay hen.in bases ka sequence genetic code determine kerta hai. Wo DNA k specific segments jo k specific body protein bunnanay k liay segments rukhtay hen un ko genes kahtay hen.right now, scientists believe kertay hen k human DNA me 25,000 se 35,000 genes hooti hen.kuch genes ki wajaa se aisi protein produce hooti hen jo eventually kuch physical features determine kerti hen jaisa k brown eyes ya curly hair.doseri genes ais body ko instructions daiti hen jin se important chemical produce hootay hen jin ko enzymes(jo k body me chemical reactions ko control kertay hen) kahtay hen. Sometime kisi specific genes k code per depend kertay huay,even aik small error Dna k structure me entire body k liay serious problem cause kera hai.sometime aik gene me error life ko short aur physically difficult ker daiti hai. Genes specific segments me human DNA k along payi jaati hen,jo k khaas structures chromosomes me pack hooti hen.her human cell me 46 chromosomes hootay hen jo k 23 k pairs me arrange hootay hen,jis me uss pair ka her member aik parent se inherited hoota hai conception k time.conception k bahd ye 46 chromosomes duplicate kertay rahtay aur developing child k her new cell me genetic information pass kertay rahtay hen. Human chromosomes itnay large hootay hen k un ko aik high-powered microscope se dekhaa ja sakay,aur 23 pairs ko un k different size,shape aur uss tara se differ kiya jaata hai jis tara wo special laboratory dyes ko pick kertay hen. Genetic Problems Abnormal numbers of chromosomes(trisomies and monosomies) Genetic problems kaheen reasons se hoo sakti hen.kabhi kabhi aik mistake hoo jaati hai cell division me,jo k chromosomes k number me error cause kerti hai jo k conception se early aur bahd me bhi hoo sakti hai.phir developing embryo cells se grow kerta hai jis me bahot zayada chromosomes hootay hen ya phir bahot kam. Trisomy me for example particular chromosome ki normal 2 copies ki jaga three copies ho jaati hen.Down syndrome,trisomy 18(Edward) syndrome, aur trisomy 13 (patau) syndrome es type ki genetic problems ki examples hen. Trisomy 18 syndrome 3,000 newborns me se aik ko effect kerti hai.children es syndrome k saath low birth weight,small head aur jaws rukhtay hen.un k hands typically abnormal finger position k saath closed fists bunnatay hen.in me malformation bhi hoo sakti hai aur in ko hips,feet,kidney,heart ki problems aur mental retardation bhi hoo sakti hai.in me se sirf 5% children 1 saal se zayada zinda rahtay hen. Trisomy 13 syndrome 5,000 newborns me se sirf 1 ko ho sakta hai.es syndrome me cleft lip,flexed fingers extra digits k saath hooti hen,face aur neck ki hemangiomas(yahni blood vessaels ki malformation) aur skull aur face k kaheen doseri structural abnormalities shamil hen.es se ribs,heart,abdominal organs aur sex organs ki malformation bhi hooti hai.long term survival unlikely hai but possible hai. Monosomy jo k aik aur number error hai,es me chromosome ka aik pair missing hoota hai.es me kahen zayada chromosomes hoonay ki jaga kaheen chromosomes kam hootay hen. Deletion, Translocations, and Inversion Kabhi kabhi chromosome number problem nahi hooti,laikin ye chromosomes incomplete ya abnormal shaped hootay hen.deletion aur microdeletion me for example kuch small part chromosome ka miss hoo jaata hai aur microdeletion me chromosome ka missing part itna small hoota hai that es per sirf single gene ya phir kuch hi genes hooti hen. Important genetic disorders jo k deletion aur microdeletion se hootay hen un me Wolf-Hirchhorn syndrome(jo chromosome 4 ko effect kerta hai),Cri-du-chat syndrome(chromosome 5),DiGeorge syndrome(chromosome 22), aur William syndrome (chromosome 7) shamil hen. Translocations me(jo k 500 newborns me se aik ko effect kerta hai),chromosome k bits aik chromosome se doseray per shift hoo jaatay hen.inversion me(jo k 100 newborns me se aik ko effect kerti hai) DNA code snipped out hoota hai.tranlocation parent se inherited bhi ho sakti hai aur child k chromosome me spontaneously arise bhi hooti hai. Translocation aur inversions dono typically children me malformation aur developmental problems cause nahi kertay.however adults jin me Translocation ya inversions hooti hai parent bunnay k time un k children me miscarriage aur chromosomal abnormalities ho sakti hen. Sex chromosomes Genetic problems tab bhi hooti hen jab abnormalities sex chromosomes ko effect kerti hen.normally newborn tab male hoota hai jab wo mother se x chromosome aur father se y chromosome receive kerta hai.child female ho gi ager wo x chromosome ki double dose aik her parent se inherit keray gi aur uss me y chromosome nahi ho ga. Kabhi kabhi child sirf aik x chromosome se ya phir aik extra x ya y chromosome se born hoota hai.Turner syndrome aik aisa disorder hai jis me girls sirf aik x chromosome se born kerti hen.jab k boys klinfelter syndrome me xxy ya phir xxxy k saath born kertay hen. Kabhi kabhi koi genetic problem x-linked hooti hai mean x chromosome uss disorder ko carry kerta hai.fragile x syndrome jis me mental retardation hooti hai boys me.doseri diseases jo k x-linked hen un me hemophilia aur Duchenne muscular dystrophy shamil hen. Females es disease ki carriers ho sakti hen but ye normal x chromosome bhi inherit kerti hen es liay abnormal cancel ho jaata hai.males me kuin k aik x chromosome hoota hai es liay un ko ye disease hoo sakti hai. Gene Mutation Mutation aam torr per genetic material me problem ko kahtay hen aur kuch diseases mutation ki waja se hooti hen jab koi gene present tu hooti haai but wo altered gene hooti hai.es problem me number aur appearance genes ka normal hoota hai.defective gene ko determine kernay k liay scientists sophisticated DNA screening techniques use kertay hen.kuch illnesses jo k single gene me problems ki waja se hooti hen:phenylketonuria(PKU), cystic fibrosis, sickle cell anemia,tay-sach disease, aur achondroplasia(dwarfism ki aik type) shamil hai. Although experts ye believe kertay hen k 3% se zayada diseases nahi hen jo single gene me eroor ki waja se hooti hen.new researches suggest kerti hen k may be ye underestimate ho.last few years me scientists ne kaheen diseases k genetic links discover kiay hen jin ko originally genetic sumjhaa jaata hai jin me kaheen different types k cancers bhi shamil hen. Oncogenes (Cancer-causing genes) Researches se 20-30 cancer susceptibility genes identify hui hen jis se person me malignancy ka chance kafi hud tk increase ho gaya hai.for example aik gene chromosome number 9 per identify hui hai jo common skin cancer jis ko basal cell carcinoma kahtay hen cause kerti hai.ye gene labeled PTC ya patched kisi din es type k cancer ki screening me important ho jaye gi.aik aur gene jis ko HNPCC kahtay hen,300 me se aik person carry kerta hai jo k insaan me colon cancer ka chance increase ker daiti hai.aur aik dangerous gene BRCA-1 women me breast cancer ka 85% chance develop ker sakti hai aur es k saath hi 50% chance ovarian tumors ka bhi. Other Genetically Linked Diseases Altered genes kaheen doseri devastating diseases k develop honnay me role play kerti hen.for example Parkinson disease jo k chromosome number 4 per present gene se hooti hai. Aur multiple sclerosis chromosome number 6 per gene ki alternation se hooti hai.Alzheimer's disease chromosome number 19 se linked hooti hai. Although heart disease aur diabetes appear hooti hen simultaneous changes ki waja se jo k kaheen different genes me hooti hai,American heart association k motabik ye gene aik artery-clogging gene ho sakti hai jo k coronary arteries me fatty deposits ker k un ko block kernay k risks ko double ker daiti hai.ye gene kisi insaan me adult-onset diabetes k chances ko triple ker daiti hai. Although heart disease and diabetes appear to be related to simultaneous changes in many different genes, the first of these may already have been identified. According to the American Heart Association, this gene may be an artery-clogging gene that almost doubles the risk of fatty deposits blocking the coronary arteries. Having the gene may also triple someone's chances of getting adult-onset diabetes. Ye note kernna important hai k bahot sari newest information genetic research se abhi usefull screening tests me translate nahi hui hai.however experts predict kertay hen k ye jaldi change ho jaye gi aur wo estimate kertay hen k coming year me available genetic test screening ka number dramatically increase ho jaye ga.
|
Sooth aunty