Chibadwa

Chibadwa ndi kuphunzira za kubadwa, njira yomwe kholo limapatsira majini ena kwa ana awo. Maonekedwe a munthu - kutalika, utoto wa tsitsi, khungu, ndi utoto wamaso - amadziwika ndi majini. Makhalidwe ena omwe amakhudzidwa ndi chibadwa ndi awa:

• Mwayi wopeza matenda ena
• Maluso amalingaliro
• Maluso achilengedwe

Khalidwe lachilendo (anomaly) lomwe limaperekedwa kudzera m'mabanja (obadwa nawo) atha:

• Sizimakhudza thanzi lanu kapena thanzi lanu. Mwachitsanzo, khalidweli limatha kungopanga tsitsi loyera kapena khutu lomwe limakhala lalitali kuposa zachilendo.
• Khalani ndi zovuta zochepa chabe, monga khungu khungu.
• Khalani ndi gawo lalikulu pamtundu wanu kapena kutalika kwa moyo.

Pazovuta zambiri zamtundu, upangiri wa majini amalangizidwa. Mabanja ambiri angafunenso kupita kuchipatala ngati m'modzi wa iwo ali ndi vuto lachibadwa.

Anthu ali ndi maselo okhala ndi ma chromosomes 46. Izi zimakhala ndi ma chromosomes awiri omwe amadziwika kuti ndi ogonana bwanji (X ndi Y ma chromosomes), ndi ma 22 awiriawiri a chromosomes a nonsex (autosomal). Amuna ndi "46, XY" ndipo akazi ndi "46, XX." Ma chromosomes amapangidwa ndi zingwe zazambiri zamtundu wotchedwa DNA. Chromosome iliyonse imakhala ndi zigawo za DNA zotchedwa majini. Chibadwa chimanyamula zomwe thupi lanu limafunikira kuti apange mapuloteni enaake.

Ma chromosomes awiri amtundu wa autosomal amakhala ndi chromosome imodzi kuchokera kwa mayi ndi imodzi kuchokera kwa abambo. Chromosome iliyonse mwa awiriwa imakhala ndi chidziwitso chofanana; ndiye kuti, mtundu uliwonse wa chromosome uli ndi majini ofanana. Nthawi zina pamakhala kusiyanasiyana pang'ono kwa majini. Kusiyanaku kumachitika munthawi yochepera 1% yamagawo a DNA. Ma jini omwe ali ndi mitundu iyi amatchedwa alleles.

Zina mwazosiyanazi zitha kubweretsa jini lomwe silachilendo. Jini losazolowereka limatha kubweretsa mapuloteni osazolowereka kapena mapuloteni abwinobwino. Mu ma chromosomes awiri a autosomal, pali mitundu iwiri ya jini iliyonse, imodzi kuchokera kwa kholo lililonse. Ngati limodzi la majiniwa silachilendo, enawo amatha kupanga mapuloteni okwanira kuti pasakhale matenda. Izi zikachitika, jini losazolowereka limatchedwa kupitirira. Ma jini obwezeretsa akuti amatengera mtundu wa autosomal recessive kapena X wolumikizidwa. Ngati pali mitundu iwiri ya jini yachilendo, matenda amayamba.

Komabe, ngati pakufunika jini imodzi yokhayo kuti ipangitse matenda, imabweretsa matenda obadwa nawo. Pakakhala vuto lalikulu, ngati jini imodzi yachilendo idachokera kwa mayi kapena abambo, mwanayo amatha kuwonetsa matendawa.

Munthu yemwe ali ndi jini imodzi yachilendo amatchedwa heterozygous ya jini limenelo. Ngati mwana alandira matenda achilendo ochokera kwa makolo onse awiri, mwanayo amawonetsa matendawa ndipo amakhala homozygous (kapena heterozygous) wa jini limenelo.

MAVUTO ACHIWALO

Pafupifupi matenda onse ali ndi chibadwa. Komabe, kufunikira kwa chinthuchi kumasiyanasiyana. Zovuta zomwe majini amachita mbali yofunikira (matenda amtundu) amatha kutchulidwa kuti:

• Kulephera kwa jini limodzi
• Matenda a Chromosomal
• Zochita zambiri

Matenda amtundu umodzi (omwe amatchedwanso Mendelian disorder) amayamba chifukwa cha chilema mumtundu wina. Kulephera kwa majini amodzi ndikosowa. Koma popeza pali masauzande ambiri amtundu umodzi wodziwika wamatenda, kuphatikiza kwawo ndikofunikira.

Matenda amtundu umodzi amadziwika ndi momwe amapatsira m'mabanja. Pali mitundu isanu ndi umodzi yoyambira ya cholowa chimodzi:

• Autosomal wamkulu
• Autosomal yochulukirapo
• X yolumikizidwa kwambiri
• X yolumikizidwa kwambiri
• Cholowa cholumikizidwa ndi Y
• Cholowa cha amayi (mitochondrial) cholowa

Zotsatira za jini (mawonekedwe a matenda) amatchedwa phenotype.

Mu cholowa chachikulu cha autosomal, zovuta kapena zofooka nthawi zambiri zimawonekera m'badwo uliwonse. Nthawi iliyonse kholo lomwe lakhudzidwa, kaya ndi wamwamuna kapena wamkazi, limakhala ndi mwana, mwanayo amakhala ndi mwayi wokwanira 50% kuti adzalandire matendawa.

Anthu omwe ali ndi mtundu umodzi wamatenda obwereza amatchedwa onyamula. Onyamula nthawi zambiri samakhala ndi zizindikiro za matendawa. Koma, jini nthawi zambiri imatha kupezeka poyesa ma laboratory.

Mu cholowa chambiri cha makolo, makolo a munthu wokhudzidwayo sangathe kuwonetsa matendawa (iwo ndi omwe amanyamula). Pafupifupi, mwayi woti makolo onyamula atha kukhala ndi ana omwe amakhala ndi matendawa ndi 25% pa mimba iliyonse. Ana amuna ndi akazi nawonso atha kukhudzidwa. Kuti mwana akhale ndi zizindikilo za matenda osokoneza bongo, mwanayo ayenera kulandira geni yachilendo kuchokera kwa makolo onse awiri. Chifukwa zovuta zambiri zomwe zimachitika mobwerezabwereza ndizochepa, mwana amakhala pachiwopsezo chambiri chodwaladwala ngati makolo ali pachibale. Anthu okhudzana nawo atengeka kuti adalandira chibadwa chofanana kuchokera kwa kholo limodzi.

Mu cholowa cholumikizidwa ndi X, mwayi wopeza matendawa ndiwokwera kwambiri mwa amuna kuposa akazi. Popeza kuti jini yosazolowereka imanyamula chromosome ya X (yachikazi), amuna samayipereka kwa ana awo aamuna (omwe adzalandira chromosome Y kuchokera kwa makolo awo). Komabe, amapatsira ana awo aakazi. Kwa akazi, kupezeka kwa chromosome imodzi yodziwika bwino ya X kumabweretsa zotsatira za X chromosome yokhala ndi jini yachilendo. Chifukwa chake, pafupifupi ana onse aakazi a munthu wokhudzidwayo amawoneka abwinobwino, koma onsewo ndi omwe amanyamula jini yachilendo. Nthawi iliyonse ana awa akabereka mwana wamwamuna, pamakhala mwayi wa 50% wamwamuna kuti alandire jini losazolowereka.

Mu cholowa cholumikizidwa ndi X, jini losazolowereka limapezeka mwa akazi ngakhale patakhala mulinso X chromosome yopezeka. Popeza amuna amapatsa Y chromosome kwa ana awo, amuna okhudzidwa sadzakhala nawo anawo. Ana awo onse aakazi adzakhudzidwa, komabe. Ana aamuna kapena aakazi azimayi omwe akhudzidwa amakhala ndi mwayi wokhala ndi matendawa 50%.

ZITSANZO ZA SANGOLE LIMODZI

Autosomal yowonongeka:

• Kuperewera kwa ADA (komwe nthawi zina kumatchedwa "mwana wamatenda")
• Kulephera kwa Alpha-1-antitrypsin (AAT)
• Cystic fibrosis (CF)
• Phenylketonuria (PKU)
• Matenda a kuchepa kwa magazi

Zowonjezera X:

• Duchenne muscular dystrophy
• Matenda a m'magazi A

Autosomal wamkulu:

• Wodziwika bwino wa hypercholesterolemia
• Matenda a Marfan

X yolumikizidwa kwambiri:

Ndi mavuto ochepa chabe, osowa, omwe amalumikizidwa ndi X. Chimodzi mwazomwezi ndi ma hypickosphatemic rickets, omwe amatchedwanso vitamini D - zotchinga zolimba.

ZOCHITIKA ZA CHROMOSOMAL

M'mavuto a chromosomal, chilemacho chimachitika chifukwa cha kuchuluka kapena kuchepa kwa majini omwe ali mgulu lonse la chromosome kapena chromosome.

Matenda a Chromosomal ndi awa:

• Matenda a 22q11.2 microdeletion
• Matenda a Down
• Matenda a Klinefelter
• Matenda a Turner

ZINTHU ZOSAVUTA KWAMBIRI

Matenda ambiri omwe amayamba chifukwa cha kuyanjana kwa majini angapo ndi zinthu zina m'deralo (mwachitsanzo, matenda a mayi ndi mankhwala). Izi zikuphatikiza:

• Mphumu
• Khansa
• Matenda a mtima
• Matenda a shuga
• Matenda oopsa
• Sitiroko

ZOCHITIKA ZA MITOCHONDRIAL ZOKHUDZA DNA

Mitochondria ndi nyumba zazing'ono zomwe zimapezeka m'maselo ambiri amthupi. Amayang'anira kupanga mphamvu mkati mwa maselo. Mitochondria ili ndi DNA yawoyawo.

M'zaka zaposachedwa, zovuta zambiri zawonetsedwa kuti zimachokera pakusintha (kusintha) mu DNA ya mitochondrial. Chifukwa mitochondria imachokera ku dzira lachikazi, zovuta zambiri zokhudzana ndi DNA zimachokera kwa mayi.

Matenda okhudzana ndi DNA a Mitochondrial amatha kuwonekera mulimonse. Ali ndi zizindikilo zosiyanasiyana. Izi zimatha kuyambitsa:

• Khungu
• Kuchedwa kwakukula
• Mavuto am'mimba
• Kutaya kwakumva
• Mavuto amtundu wamtima
• Zosokoneza zamagetsi
• Msinkhu waufupi

Matenda ena amadziwikanso kuti matenda a mitochondrial, koma samakhudza kusintha kwa DNA ya mitochondrial. Matendawa nthawi zambiri amakhala opunduka amtundu umodzi. Amatsatira njira yofanana ya cholowa monga mavuto ena amtundu umodzi. Ambiri ndiosinthasintha kwambiri.

Wokometsa; Cholowa; Wopanda mphamvu; Mitundu ya cholowa; Cholowa ndi matenda; Zosavuta; Zolemba zamagulu

• Chibadwa

Feero WG, Zazove P, Chen F. Zazachipatala zamankhwala. Mu: Rakel RE, Rakel DP, olemba. Buku Lophunzitsira La Banja. 9th ed. Philadelphia, PA: Elsevier; 2016: chap 43.

Korf BR. Mfundo za chibadwa. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: chap 35.

Scott DA, Lee B. Njira yomwe amathandizira paubwino wazachipatala. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 95.