تعريفات في علم الجينات

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سلامً من الله عليكم ورحمتة وبركاتة

بعض التعريفات المستخدمة في علم الجينيتك


Gene: a seqene f netides that epesents a fntina nit f inheitane; a egin f DNA that des f a pdt, eithe NA ptein.

hmsme: a highy deed stte mpsed f DNA and pteins that aies the geneti infmatin. In hmans, thee ae 46 hmsmes deed in pais.

Atsme: a hmsmes the than the X and Y hmsmes, whih ae designated the sex hmsmes.

Hmgs hmsmes hmgs: siste hmsmes, the membes f a pai f hmsmes in whih ne is inheited fm the mthe and the the fm the fathe.

s: the psitin f a gene n a hmsme.

Aee: an atenative fm f a gene pying the same s. An aee may be the est f a mtatin. Thee is a maximm f tw aees pe dipid hmsme mpement (ne aee pe hmsme), bt mtipe aees may exist within a ppatin.

Mtatin: a pemanent heitabe hange in the seqene f genmi DNA. This may manifest at bth the mea and ytgeneti eves. Nt a mtatins ae negative events. Many ae benign (e.g., be eye ) and sme have psitive effets (e.g., sike e tait in nties with a signifiant isk f maaia). Individas with a nstittina mtatin (i.e., a mtatin pesent in evey e f the bdy) may pass that mtatin n t thei pgeny by gem-ine tansmissin. In sme ases, ntaby ane, an aqied mtatin may aise in a singe smati e, whih then divides mittiay, giving ise t a new ne f es. The mtatin wi be imited t this ne and wi nt be tansmitted t pgeny f the individa. In ae instanes f gnada msaiism, a de nv aqied mtatin may aise in the gnads, esting in a mixed ppatin f nma and mtant gametes. Pgeny eeiving the new mtatin may dispay a phentype nt pesent in eithe paent.

Kaytype: the hmsme nstittin f an individa.

Kaygam: a fige shwing the paied hmsmes fm a e
aayed in a standad seqene

Dipid: the pesene f tw pies f eah niqe hmsme pe e. In hmans, the hmsmes in pais and the dipid (2N) nmbe is 46.

Hapid: ne py f eah niqe hmsme. In hmans, the gametes ae hapid (N = 23).

Hmzygs: bth aees at a s ae the same. (In the AB system, an AA mpement epesents hmzygsity.)

Hetezygs: the tw aees at a s ae diffeent. (In the AB system, an A mpement epesents hetezygsity.)

Hemizygs: the pesene f ny ne hmsme hmsme segment athe than the sa tw; appies t maes with a singe X hmsme.

Gentype: the geneti nstittin f an individa ganism (i.e., what aees ae pesent). (In the AB system, AA, A, BB, B, AB, and ae gentypes.)
Phentype: the appeaane f an individa that ests fm the inteatin f envinment and gentype. (In the AB system, A, B, and bd types epesent the phentypi expessin f the aees f a given individa.)

Dminant aee: an aee that is expessed when pesent in ny a singe dse (i.e., it ‘dminates' ve the the aee pesent). (In the AB system, A is dminant ve sh that an A gentype ests in an A bd type phentype. Simiay, the pesene f pigment (T) is dminant t the absene f pigment (t) (i.e., abinism), sh that Tt ests in pigmentatin.)

eessive aee: in a dipid ganism, an aee that is ny expessed when hmzygs. (In the AB system, the bd gp is ny seen with a gentype; is eessive t A and B. Simiay, abinism (t) is eessive t pigmentatin (T), and an abin phentype ny s with a tt gentype.)

dminant aees: in a dipid ganism, aees that shw n dminane eessivity t eah the bt, when pesent tgethe ae bth fy expessed. (In the AB system, A and B ae dminant sh that an AB gentype expesses bth A and B antigens.)

Independent asstment: andm asstment f hmsmes (patena and matena) in the gametes; 50:50 hane f inheiting a given hmsme fm ne paent.

inkage: the pesene f tw me genes n the same hmsme that tend t be inheited tgethe.

ssing ve: the physia exhange f geneti mateia between hmgs hmsmes.

embinatin: the geneatin f new aei mbinatins n hmsmes, say by ssing ve.

Mitsis: smati e divisin in whih the DNA epiates and is eveny distibted t tw eqa daghte es.

Meisis: e divisin in the gnads that pdes the gametes. A singe DNA epiatin is fwed by tw e divisins whih edes the tta DNA ntent f a e fm 2N t N. embinatin s t inease geneti divesity within a ppatin.

Nndisjntin: faie f hmsmes hmatids t sepaate t ppsite pes in e divisin. say ests in ne t many ne t few hmsmes in a e.

Pease be advised that a definitins wee taken fm the Heny's inia Diagnsis and Management by abaty

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