S di truyn Mendel ngi

Cng nh u H Lan, rui gim hay mo, ngi c rt nhiu tnh trng di truyn theo cc quy lut Mendel. Chng hn, theo thng k ca Victor A.McKusick nm 1994, c 6.678 tnh trng v cc bnh n gene. Cho n ngy 8/2/2005, cc s liu v s lng gene v kiu hnh c nu bng 1.4 (OMIM 2005). Ni chung, vic xc nh phng thc di truyn ngi l tng i kh khn, v

mi gia nh c t con, thng khng qu 10 ngi. khc phc iu ngi ta s dng phng php phn tch ph h (pedigree analysis). Di y nu mt s tnh trng tri v ln ngi m khng phn tch c im ca cc kiu di truyn (xem chng 11). Bng 1.4 S lng cc mc Lin Lin DNA NST kt kt ty thng X Y th Tng Gene c trnh t bit 9517 423 48 37 Gene c trnh t v kiu hnh r 360 10.025

38 0

398

M t kiu hnh, c s ph.t r 1512 137 2 Kiu hnh hay locus Mendel, c s phn t cha bit 1326 134 4 Cc kiu hnh chnh yu khc c c s Mendel cn kh nghi 2150 153 2 Tng

27

1.678

1.464

2.305 15.870

14.865 885 56 64

1. Cc tnh trng ln (recessive traits)

 ngi, hu ht cc ri lon di truyn l ln (xem bng 1.5). i a s nhng ngi mc cc bnh ny thng c b m u bnh thng v kiu hnh, nhng li mang gene bnh trng thi d hp. Bng 1.5 Mt s ri lon n gene thuc nhim sc th thng ngi (phng theo Campbell v Reece 2001; Lewis 2003) Cc triu chng (v nguy c mc phi)

Ri lon Cc ri lon ln

Bch tng

Thiu sc t da, tc v mt (1/22.000)

Ha x nang

Tha cht nhy phi, dch tiu ha, gan Tch ly galactose cc m; tr n; tn thng mt v gan. (1/100.000; x l bng king galactose). Gan v lch sng phng, thiu mu, xut huyt ni C th gi li st; nguy c ly nhim cao, tn thng

Galactosemia

Gaucher

Hemochromatosis

gan, tim v ty , tha sc t da Tch ly phenylalanyl trong mu; thiu sc t da bnh thng; tr n, hn m, cht tui nh (1/10.000) Tn thng lch v nhiu c quan; nguy c ly hng cunhim cao (1/500 (ng hpngi M gc chu Phi; ng tri)

Phenylketonuria

Bnh lim t)

Bnh Tay-Sachs

Tch ly lipid trong cc t bo no gy suy thoi thn kinh; m mu; cht thi th u

Cc ri lon tri Ln vi t chi ngn, u v thn bnh thng Thoi ha tm thn; thng xy ra mun mng Thoi ha tm thn v cc c ng mt

Achondroplasia

Bnh Alzheimer Bnh Huntington

kim sot Tha cholesterol trong mu; bnh tim; 1/500 l d Hypercholesterolemiahp Khng c kh nng phn gii ng lactose, gy ra tnh trng npchut rt sau khi n loi ng ny T chi di nh vn, ngc lm, hng thy tinh th, cc ngn tay mnh khnh, ng mch

Khng lactose

dung

Hi chng Marfan

ch suy yu Cc bng trong cc qu thn, ur trong mu, huyt p cao, au bng di Tt nhiu ngn Tha cc ngn tay, ngn chn

Bnh thn a nang

Hai bnh ln in hnh l bch tng v ha x nang. Nhng ngi b bch tngHa x nang (cystic fibrosis) l mt bnh di truyn gy cht ph bin nht M (USA). Bnh ln ny ph bin nht nhng ngi M da trng gc Capca (Caucasians), vi tn s chung l 1/1.800, ngha l trung bnh c 25 ngi c mt ngi mang allele ln ny

(Campbell v Reece 2001) hay i vi tr s sinh l 1/2.500 (Weaver v Hedrick 1997). Ngi b bnh ny c c im l tit ra mt lng d tha cht nhy dy phi, ty v cc c quan khc. Cc cht nhy ny c th lm nhiu lon s th, tiu ha v chc nng ca gan v lm cho ngi bnh ri vo nguy c vim phi v cc bnh truyn nhim khc. Nu khng c iu tr, hu ht tr em mc bnh ny s b cht tui ln nm. Theo thng k ca McKusick nm 1994, c 1.730 mc cho cc locus ln. (albino) l do thiu ht sc t melanin, nn da d trng bch, tc v trng en ca mt tr nn nht khc thng (hnh 1.5)... 2. Cc tnh trng tri (dominant traits)

Mc d hu ht cc allele c hi l allele ln, nhng mt s cc ri lon ngi l do cc allele tri (xem bng 1.5). Trong s c mt vi allele khng gy cht, chng hn nh tt tha cc ngn tay v chn (hnh 1.5), hoc c mng da gia cc ngn tay v chn. Cc tnh trng nh c tn nhang, di tai thng cng nh cc kh nng un li hnh ng v gp ngc li ln trn u do cc gene tri n khc nhau kim sot. Theo thng k ca McKusick nm 1994, c 4.458 mc cho cc locus tri.

Hnh 1.5 Mt s v d v di truyn Mendel ngi. T tri sang l bch tng, tt nhiu ngn v dng ln ph bin (achondroplasia). Th d in hnh v ri lon tri nghim trng l dng ln ph bin do thoi ha sn gi l achondroplasia (hnh 1.5), u v thn mnh pht trin bnh thng nhng tay chn ngn mt cch bt thng; t l mc bnh ny l khong 1 trn 25.000 ngi. Ch nhng ngi d hp t mi b ri lon ny; cn kiu gen ng hp t tri gy cht phi. Trng hp khc l bnh Huntington

(Huntington's disease), mt dng ri lon do s suy thoi ca h thn kinh thng xy ra t sau tui trung nin. Khi bnh tin trin, n lm cho cc c ng trn mi phn ca c th mt kh nng kim sot. S mt mt cc t bo no dn ti mt tr nh v kh nng suy xt, gp phn y nhanh s suy thoi. Cui cng, mt lun cc k nng vn ng lm cho khng nut v ni nng c. Ci cht thng xy ra sau khi cc triu chng bt u biu hin khong 10-20 nm (Campbell v Reece 2001).