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微卫星位点在基因组扫描中的信息表现

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B07<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

65<br />

<br />

<br />

<br />

<br />

} ~ 139 (polymorphism<br />

info rm a t io n co n ten t, PIC)¢ PCR 139 ,<br />

Gene Scan TM Genotyper TM Þ» 0. 35 0. 89, 88%<br />

> 0. 60, PIC 0. 32 0. 88, 94% PIC>0.50Þ , <br />

, <br />

}¸×‡~ ; ; ; <br />

In f orma t ion behav ior of m icro sa te ll ite loc i in gen om e scann in g 3 YUA N W entao 1 , XU H ongyan 3 , ZHAO<br />

Jinying 4 , DING Wei 5 , JIANG Hongquan 5 , GU M ingm in 2 , XUE J inglun 3 , CH EN J ialun 5 , FA N G<br />

Fude 4 , CH EN Zhu 1 , JIN Li 3 , HUAN GW ei 1 . 1 (M olecu larM ed ical Center, RuijinH ospital, S hanghai<br />

S econd M ed ical U niversity , S hanghai , 200025 P. R. China. E 2m ail: huangw ei @chg c. sh. cn );<br />

2<br />

(D ep artm ent of M ed ical Genetic, S hanghai S econd M ed ical U niversity, S hanghai, 250025 P. R. China);<br />

3<br />

(Genetic Institute, Fudan University, S hanghai, 200433 P. R. China); 4 ( Institute of B asic M edical<br />

S ciences, Ch inese A cad em y of M ed ical S ciences, Beijing, 100005 P. R. China) 5 (S hanghai Institute of<br />

Endocrinology , S hanghai, 200025 P. R. China)<br />

AbstractObjectiveTo determ ine the heterozygo sity and po lymo rphism info rm ation content of<br />

139 m icro satellite loci in Han population. MethodsM u ltip lex app roach w as u sed to analyze the 139 lo ci.<br />

The amp lified fragm ents w ere subjected to electropho resis in PA GE gel and analyzed w ith Genescan TM and<br />

Genotyper TM . ResultsThe heterozygosities are between 0. 35 to 0. 89, w ith the heterozygosites of 88%<br />

lo ci > 0. 60. PICs are in the rangeof 0. 32 and 0. 88 , with PICsof 95% lo ci> 0. 50. ConclusionThe<br />

po lymo rphism info rm ation content of m icro satellite loci is very high and their distribution varies in<br />

different races and populations.<br />

Key wordsm icro satellite locus; polym erase chain reaction; heterozygo sity; polymorphism<br />

info rm a t io n co n ten t<br />

3 Supported by the "863" high2tech Project (102210202203) , Scien t ific R esearch Founda t ion of M in ist ry. of Public<br />

Health ( 96212322) , Shanghai M unicipal Science and Technology Developm ent Foundation ( 98ZB 14054) , Shanghai<br />

M unicipalNatural Science Foundation (95JC14002)<br />

Both Yuan W entao and Xu Hongyan are the first authors<br />

DNA ( sho rt tandem rep eats,<br />

STR ) , ,<br />

2 6 , <br />

, (CA ) n [1] <br />

, <br />

, , <br />

:863(102210202203) , (962<br />

12322) , (98ZB 14054)<br />

(95JC14002)<br />

: 200025<br />

() , () ; <br />

() ; () ;<br />

()<br />

1 <br />

: (E2mail: huangwei@chgc sh cn)<br />

( heterozygo sity, H ) (polymorphism<br />

info rm a t io n co n ten t, PIC) , [2] <br />

PCR , <br />

, <br />

, <br />

1 tˢ<br />

111 72 <br />

DNA , 36 , 36 51 97 , <br />

68173 <br />

112<br />

11211PCR FAM TET HEX 3 <br />

(Perkin Elmer


66<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

B07<br />

) , 22 1 X <br />

PCR [3] , 7 16 , <br />

5 Λl<br />

, Taq Start TM <br />

, Taq , Taq <br />

; , , Taq , Taq <br />

1 ,<br />

63, 1 015, <br />

14 , 56 <br />

, 2 <br />

56PCR 96 ,<br />

Perkin Elmer 9600 <br />

11212, 6% <br />

7 mmolgL 0. 5Λl PCR<br />

0. 4ΛlAB IGS2350 TAM RA ,<br />

0. 8 Λl loading buffer,0. 8Λl , 94<br />

2 min, , DNA <br />

, AB I 373 3 h, <br />

700 1000V , 23W <br />

11213 Gene Scan TM 672 GS<br />

co llect io n , Gene Scan TM Analysis2. 0. 1 <br />

, <br />

, Genotyper TM 1. 1. 1 <br />

o 1<br />

[4] <br />

2 Þ»<br />

211<br />

, 2 bp , <br />

, 2 bp <br />

, <br />

212<br />

21211, 1<br />

, 22 :<br />

S= [f (1- f) g2N ] 1g2<br />

f= ag2N a ,N <br />

21212 (H ) (PIC) <br />

2 :<br />

H =1-<br />

( 2 n<br />

i= 1 P i2 ) ()<br />

PIC=1- ( 2 n<br />

P<br />

i= 1 i2 ) - 2 n n<br />

2 2P<br />

i= 1 j= i+ 1 i2 P j 2<br />

n , P i P j i j <br />

[5] <br />

21213 (Centre Etude<br />

Po lymo rphism H um ain) (CEPH ) <br />

ς 2 , 2<br />

<br />

Table1Loci’s allele frequency and standard error<br />

D 1S502<br />

D 2S338<br />

D 3S1279<br />

D 4S1575<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

1 259 5. 61. 9 273 2. 11. 2 262 00 290 9. 02. 4<br />

2 261 2. 81. 4 275 2. 11. 2 264 3. 61. 5 292 73. 63. 7<br />

3 263 8. 32. 3 277 12. 52. 8 266 18. 63. 2 294 15. 33. 0<br />

4 265 16. 03. 1 279 2. 11. 2 268 41. 44. 1 296 1. 41. 0<br />

5 267 11. 82. 7 281 11. 12. 6 270 0. 70. 7 298 0. 70. 7<br />

6 269 14. 62. 9 283 5. 61. 9 272 1. 41. 0<br />

7 271 18. 83. 3 285 15. 33. 0 274 13. 62. 9<br />

8 273 6. 92. 1 287 34. 03. 9 276 7. 12. 1<br />

9 275 9. 02. 4 289 9. 72. 5 278 8. 62. 3<br />

10 277 2. 81. 4 291 4. 91. 8 280 2. 91. 4<br />

11 279 2. 11. 2 293 0. 70. 7 282 1. 41. 0<br />

12 281 1. 41. 0 284 0. 70. 7<br />

D 5S418<br />

D 6S257<br />

D 7S484<br />

D 8S514<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

1 207 24. 33. 6 160 1. 41. 0 90 16. 73. 1 212 0. 70. 7<br />

2 209 1. 41. 0 162 0. 70. 7 92 0. 70. 7 214 1. 41. 0<br />

3 211 19. 33. 33 164 0. 70. 7 94 1. 41. 0 216 22. 93. 5<br />

4 213 6. 32. 0 166 1. 41. 0 98 1. 41. 0 218 13. 92. 9<br />

5 215 14. 62. 9 168 5. 61. 9 100 2. 81. 4 220 6. 92. 1<br />

6 217 1. 41. 0 170 9. 02. 4 102 0. 70. 7 222 41. 74. 1<br />

to be continued on page 67 ( 1 67 )


B07<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

67<br />

Continued from Table 1 on page 66 ( 1)<br />

D 5S418<br />

D 6S257<br />

D 7S484<br />

D 8S514<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

7 219 4. 21. 7 172 16. 03. 1 104 26. 43. 7 224 6. 32. 0<br />

8 221 17. 43. 2 174 17. 43. 2 106 16. 73. 1 226 5. 61. 9<br />

9 223 6. 92. 1 176 20. 13. 3 108 19. 43. 3 228 0. 70. 7<br />

10 225 4. 21. 7 178 16. 03. 1 110 1. 41. 0<br />

11 180 7. 62. 2 112 9. 72. 5<br />

12 182 2. 81. 4 114 2. 81. 4<br />

13 184 1. 41. 0<br />

D 9S290<br />

D 10S587<br />

D 11S934<br />

D 12S368<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

1 242 5. 61. 9 88 1. 41. 0 301 13. 22. 8 200 43. 04. 1<br />

2 244 33. 33. 9 90 0. 70. 7 303 2. 11. 2 202 4. 21. 7<br />

3 246 17. 43. 2 92 2. 11. 2 305 67. 43. 9 204 15. 53. 0<br />

4 248 27. 13. 7 94 31. 33. 9 307 5. 61. 9 206 1. 41. 0<br />

5 250 6. 92. 1 96 10. 42. 5 309 4. 21. 7 208 1. 41. 0<br />

6 252 6. 32. 0 98 3. 51. 5 311 1. 41. 0 210 25. 43. 6<br />

7 254 3. 51. 5 100 4. 21. 7 313 4121. 7 212 9. 22. 4<br />

8 102 6. 32. 0 315 0. 70. 7<br />

9 104 18. 83. 3 317 1. 41. 0<br />

10 106 7. 62. 2<br />

11 108 10. 42. 5<br />

12 110 3. 51. 5<br />

D 13S156<br />

D 14S70<br />

D 15S130<br />

D 16S415<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

1 274 5. 61. 9 98 4. 21. 7 280 0. 70. 7 208 14. 62. 9<br />

2 276 2. 11. 2 100 7. 62. 2 282 29. 23. 8 218 0. 70. 7<br />

3 278 17. 43. 2 102 30. 63. 8 284 18. 83. 3 220 0. 70. 7<br />

4 280 9. 02. 4 104 29. 93. 8 286 8. 32. 3 222 28. 53. 8<br />

5 282 16. 03. 1 106 13. 92. 9 290 2. 11. 2 224 38. 94. 1<br />

6 284 30. 63. 8 108 13. 22. 8 292 29. 93. 8 226 9. 72. 5<br />

7 286 17. 43. 2 110 0. 70. 7 294 2. 81. 4 228 4. 21. 7<br />

8 288 0. 70. 7 296 7. 62. 2 230 2. 11. 2<br />

9 290 0. 70. 7 298 0. 70. 7 232 0. 70. 7<br />

10 292 0. 70. 7<br />

D 17S799<br />

D 18S59<br />

D 19S420<br />

D 20S196<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

Frequency<br />

() (% )<br />

1 186 1. 41. 0 151 37. 54. 0 78 0. 70. 7 257 2. 11. 2<br />

2 188 1. 41. 0 153 5. 61. 9 84 0. 70. 7 259 29. 93. 8<br />

3 190 4. 21. 7 155 10. 42. 5 86 0. 70. 7 265 2. 11. 2<br />

4 192 27. 13. 7 157 16. 03. 1 88 17. 43. 2 267 1. 41. 0<br />

5 194 2. 11. 2 159 2. 81. 4 90 11. 12. 6 271 1. 41. 0<br />

6 196 50. 74. 2 161 21. 53. 4 92 22. 23. 5 273 0. 70. 7<br />

7 198 4. 21. 7 163 2. 11. 2 94 14. 62. 9 275 6. 92. 1<br />

8 200 8. 32. 3 165 2. 81. 4 96 20. 83. 4 277 2. 81. 4<br />

9 202 0. 70. 7 167 0. 70. 7 98 9. 02. 4 279 6. 92. 1<br />

10 173 0. 70. 7 100 2. 11. 2 281 13. 22. 8<br />

11 102 0. 70. 7 283 13. 92. 9<br />

12 285 12. 52. 8<br />

13 287 4. 21. 7<br />

14 289 2. 11. 2<br />

to be continued on page 68 ( 1 68 )


68<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

B07<br />

Continued from Table 1 on page 67 ( 1)<br />

A llele<br />

() (bp)<br />

D 21S263<br />

Frequency<br />

() (% )<br />

A llele<br />

() (bp)<br />

D 22S283<br />

Frequency<br />

() (% )<br />

D 21S263<br />

A llele<br />

() (bp )<br />

Frequency<br />

() (% )<br />

D 22S283<br />

A llele<br />

() (bp )<br />

Frequency<br />

() (% )<br />

1 193 9. 02. 4 127 0. 70. 7 9 219 15. 33. 0 143 8. 32. 3<br />

2 197 4. 21. 7 129 0. 70. 7 10 221 3. 51. 5 145 4. 21. 7<br />

3 199 20. 13. 3 131 13. 92. 9 11 147 4. 21. 7<br />

4 209 0. 70. 7 133 5. 61. 9 12 149 2. 81. 4<br />

5 211 1. 41. 0 135 9. 72. 5 13 151 1. 41. 0<br />

6 213 5. 61. 9 137 15. 33. 0 14 153 1. 41. 0<br />

7 215 17. 43. 2 139 18. 13. 2 15 155 0. 70. 7<br />

8 217 22. 93. 5 141 13. 22. 8<br />

o 2 ς 2 <br />

Locus<br />

()<br />

Chromosome<br />

()<br />

A llele size<br />

range<br />

(<br />

)<br />

Table 2Loci’s Heterozygo sity, PIC and ς 2 test<br />

PIC<br />

(<br />

)<br />

Heterozygosity ()<br />

Observed<br />

()<br />

Expected<br />

()<br />

Heterozygosity<br />

()<br />

(CEPH)<br />

P value<br />

(P )<br />

D 1S196 1 3082324 0. 56 0. 67 0. 60 0. 74 0. 0014<br />

D 1S206 1 2002218 0. 77 0. 79 0. 79 0. 82 0. 4349<br />

D 1S207 1 1412171 0. 79 0. 81 0. 81 0. 84 0. 4132<br />

D 1S214 1 1142143 0. 55 0. 62 0. 58 0. 78 1. 379E206<br />

D 1S218 1 2632287 0. 78 0. 90 0. 81 0. 83 0. 5944<br />

D 1S235 1 2012231 0. 61 0. 90 0. 67 0. 68 0. 8303<br />

D 1S249 1 1552185 0. 71 0. 78 0. 73 0. 87 3. 142E205<br />

D 1S413 1 2462262 0. 74 0. 81 0. 76 0. 76 1. 0000<br />

D 1S424 1 1962230 0. 43 0. 75 0. 51 0. 73 7. 218E207<br />

D 1S498 1 1802204 0. 68 0. 73 0. 72 0. 82 0. 0092<br />

D 1S502 1 2502290 0. 87 0. 85 0. 88 0. 89 0. 7493<br />

D 2S125 2 842104 0. 80 0. 86 0. 82 0. 82 1. 0000<br />

D 2S139 2 1072131 0. 70 0. 82 0. 74 0. 81 0. 0744<br />

D 2S142 2 2312249 0. 70 0. 71 0. 74 0. 76 0. 6396<br />

D 2S325 2 1542178 0. 72 0. 79 0. 76 0. 82 0. 1186<br />

D 2S337 2 2872311 0. 79 0. 74 0. 82 0. 88 0. 0648<br />

D 2S338 2 2702294 0. 80 0. 78 0. 82 0. 81 0. 7988<br />

D 2S367 2 3012333 0. 86 0. 93 0. 87 0. 86 0. 7732<br />

D 2S396 2 2282246 0. 86 0. 78 0. 87 0. 83 0. 2869<br />

D 3S1266 3 2852299 0. 64 0. 74 0. 69 0. 73 0. 3676<br />

D 3S1279 3 2642282 0. 73 0. 75 0. 76 0. 85 0. 0117<br />

D 3S1285 3 2302248 0. 67 0. 84 0. 72 0. 73 0. 8218<br />

D 3S1289 3 1982218 0. 78 0. 79 0. 80 0. 81 0. 7988<br />

D 4S1575 4 2852301 0. 39 0. 51 0. 43 0. 65 3. 979E206<br />

D 4S403 4 1652181 0. 70 0. 62 0. 74 0. 77 0. 4759<br />

D 4S424 4 1922206 0. 57 0. 59 0. 59 0. 83 1. 667E210<br />

D 5S406 5 1602188 0. 73 0. 74 0. 76 0. 79 0. 4614<br />

D 5S408 5 2592279 0. 81 0. 84 0. 84 0. 73 0. 0132<br />

D 5S418 5 2042224 0. 71 0. 84 0. 73 0. 80 0. 0801<br />

D 5S421 5 1642186 0. 72 0. 89 0. 74 0. 82 0. 0373<br />

D 5S424 5 2072229 0. 61 0. 64 0. 65 0. 76 0. 0100<br />

D 5S471 5 2332253 0. 67 0. 78 0. 72 0. 76 0. 3490<br />

D 5S630 5 3202426 0. 88 0. 79 0. 89 0. 90 0. 7389<br />

D 5S647 5 3202360 0. 76 0. 73 0. 78 0. 82 0. 2978<br />

D 6S257 6 1632189 0. 84 0. 90 0. 86 0. 87 0. 7662<br />

D 6S264 6 1062126 0. 50 0. 51 0. 52 0. 70 8. 568E205<br />

D 6S276 6 1972229 0. 71 0. 67 0. 75 0. 83 0. 0332<br />

D 6S287 6 1032135 0. 65 0. 73 0. 68 0. 85 1. 927E206<br />

D 6S289 6 1562176 0. 80 0. 81 0. 82 0. 79 0. 4614<br />

D 6S292 6 1512171 0. 81 0. 86 0. 83 0. 83 1. 0000<br />

D 6S305 6 2482274 0. 84 0. 78 0. 86 0. 84 0. 5854<br />

D 6S308 6 3212347 0. 61 0. 73 0. 65 0. 75 0. 0209<br />

to be continued on page 69 ( 2 69 )


B07<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

69<br />

Continued from Table 2 on page 68 ( 2)<br />

Locus<br />

()<br />

Chromosome<br />

()<br />

A llele size<br />

range<br />

(<br />

)<br />

PIC<br />

(<br />

)<br />

Heterozygosity ()<br />

Observed<br />

()<br />

Expected<br />

()<br />

Heterozygosity<br />

()<br />

(CEPH)<br />

P value<br />

(P )<br />

D 6S422 6 2922314 0. 60 0. 73 0. 66 0. 77 0. 0090<br />

D 6S434 6 1982242 0. 74 0. 77 0. 77 0. 86 0. 0095<br />

D 6S462 6 1012115 0. 59 0. 70 0. 62 0. 68 0. 1984<br />

D 6S470 6 1172137 0. 63 0. 68 0. 67 0. 80 0. 0012<br />

D 7S484 7 992113 0. 80 0. 75 0. 83 0. 74 0. 0402<br />

D 7S493 7 2002230 0. 62 0. 60 0. 65 0. 88 1. 465E212<br />

D 7S519 7 2542280 0. 72 0. 79 0. 74 0. 81 0. 0744<br />

D 7S531 7 2732291 0. 72 0. 78 0. 75 0. 77 0. 6346<br />

D 8S258 8 1382154 0. 52 0. 63 0. 55 0. 70 0. 0011<br />

D 8S514 8 2092227 0. 71 0. 75 0. 74 0. 77 0. 4759<br />

D 9S157 9 2112245 0. 75 0. 78 0. 78 0. 84 0. 1017<br />

D 9S161 9 1182136 0. 68 0. 55 0. 71 0. 78 0. 0911<br />

D 9S273 9 1982218 0. 63 0. 63 0. 66 0. 74 0. 0682<br />

D 9S286 9 1312165 0. 76 0. 77 0. 79 0. 88 0. 0056<br />

D 9S290 9 2382260 0. 74 0. 78 0. 77 0. 83 0. 1102<br />

D 10S189 10 1762192 0. 73 0. 81 0. 77 0. 72 0. 2655<br />

D 10S197 10 1612175 0. 70 0. 77 0. 74 0. 75 0. 8174<br />

D 10S212 10 1852201 0. 38 0. 45 0. 40 0. 71 8. 387E212<br />

D 10S217 10 922116 0. 83 0. 88 0. 85 0. 81 0. 3079<br />

D 10S537 10 1352161 0. 71 0. 81 0. 75 0. 83 0. 0332<br />

D 10S548 10 1782194 0. 55 0. 67 0. 61 0. 70 0. 0495<br />

D 10S587 10 882110 0. 81 0. 79 0. 83 0. 80 0. 4533<br />

D 10S591 10 3042332 0. 46 0. 64 0. 49 0. 71 1. 245E206<br />

D 10S597 10 2702290 0. 54 0. 59 0. 64 0. 64 1. 0000<br />

D 11S1320 11 2562272 0. 50 0. 55 0. 55 0. 68 0. 0053<br />

D 11S1345 11 2312245 0. 66 0. 79 0. 71 0. 71 1. 0000<br />

D 11S1358 11 2842304 0. 62 0. 74 0. 68 0. 76 0. 0610<br />

D 11S898 11 1362158 0. 32 0. 48 0. 39 0. 85 5. 642E238<br />

D 11S901 11 3062322 0. 62 0. 77 0. 67 0. 82 9. 448E205<br />

D 11S922 11 1272181 0. 71 0. 68 0. 73 0. 83 0. 0078<br />

D 11S934 11 2992327 0. 50 0. 42 0. 52 0. 84 2. 576E218<br />

D 11S935 11 1922214 0. 75 0. 74 0. 78 0. 73 0. 2601<br />

D 11S968 11 1362156 0. 66 0. 75 0. 70 0. 81 0. 0050<br />

D 12S326 12 2012227 0. 58 0. 73 0. 64 0. 80 6. 334E205<br />

D 12S336 12 1092127 0. 79 0. 93 0. 82 0. 82 1. 0000<br />

D 12S345 12 2082242 0. 83 0. 88 0. 85 0. 87 0. 5520<br />

D 12S351 12 1422166 0. 68 0. 85 0. 73 0. 75 0. 6442<br />

D 12S368 12 1992219 0. 68 0. 71 0. 72 0. 81 0. 0218<br />

D 12S78 12 1692207 0. 77 0. 75 0. 79 0. 91 2. 751E205<br />

D 12S79 12 1552181 0. 79 0. 73 0. 81 0. 87 0. 0744<br />

D 12S83 12 992119 0. 88 0. 92 0. 89 0. 81 0. 0414<br />

D 13S156 13 2722292 0. 78 0. 82 0. 81 0. 80 0. 8026<br />

D 13S173 13 2302248 0. 68 0. 71 0. 72 0. 82 0. 0092<br />

D 13S175 13 972115 0. 67 0. 74 0. 72 0. 76 0. 3490<br />

D 13S217 13 2392257 0. 75 0. 81 0. 77 0. 68 0. 0537<br />

D 13S263 13 1432169 0. 76 0. 73 0. 77 0. 84 0. 0562<br />

D 14S258 14 1912209 0. 65 0. 66 0. 70 0. 80 0. 0124<br />

D 14S261 14 2692299 0. 57 0. 59 0. 61 0. 76 0. 0004<br />

D 14S276 14 2332245 0. 80 0. 81 0. 82 0. 77 0. 2348<br />

D 14S280 14 2362254 0. 68 0. 84 0. 71 0. 69 0. 6654<br />

D 14S288 14 1872209 0. 87 0. 85 0. 88 0. 84 0. 2752<br />

D 14S63 14 1722190 0. 78 0. 85 0. 81 0. 77 0. 3419<br />

D 14S65 14 1222152 0. 75 0. 79 0. 77 0. 79 0. 6234<br />

D 14S68 14 3172343 0. 87 0. 92 0. 88 0. 88 1. 0000<br />

D 14S70 14 962110 0. 74 0. 92 0. 77 0. 76 0. 8149<br />

to be continued on page 70 ( 2 70 )


70<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

B07<br />

Continued from Table 2 on page 69 ( 2)<br />

Locus<br />

()<br />

Chromosome<br />

()<br />

A llele size<br />

range<br />

(<br />

)<br />

PIC<br />

(<br />

)<br />

Heterozygosity ()<br />

Observed<br />

()<br />

Expected<br />

()<br />

Heterozygosity<br />

()<br />

(CEPH)<br />

P value<br />

(P )<br />

D 15S117 15 3162334 0. 63 0. 62 0. 66 0. 78 0. 0038<br />

D 15S120 15 1502178 0. 73 0. 73 0. 76 0. 73 0. 4992<br />

D 15S127 15 1142148 0. 84 0. 85 0. 85 0. 86 0. 7732<br />

D 15S128 15 1932211 0. 79 0. 86 0. 82 0. 78 0. 3342<br />

D 15S130 15 2802294 0. 74 0. 82 0. 78 0. 66 0. 0113<br />

D 15S131 15 2372275 0. 79 0. 79 0. 80 0. 83 0. 4245<br />

D 15S153 15 2372269 0. 80 0. 85 0. 82 0. 87 0. 1371<br />

D 15S165 15 1802208 0. 34 0. 34 0. 35 0. 79 3. 345E227<br />

D 16S401 16 1662180 0. 76 0. 85 0. 79 0. 75 0. 3556<br />

D 16S411 16 2152235 0. 52 0. 55 0. 56 0. 78 1. 091E207<br />

D 16S415 16 2082236 0. 69 0. 64 0. 73 0. 72 0. 8238<br />

D 16S420 16 2502276 0. 66 0. 73 0. 70 0. 82 0. 0018<br />

D 16S503 16 2942310 0. 63 0. 70 0. 67 0. 81 0. 0004<br />

D 16S516 16 2412261 0. 68 0. 77 0. 72 0. 73 0. 8218<br />

D 17S787 17 1342170 0. 82 0. 88 0. 84 0. 81 0. 4444<br />

D 17S799 17 1822202 0. 61 0. 73 0. 66 0. 68 0. 6681<br />

D 17S808 17 3272341 0. 66 0. 78 0. 72 0. 65 0. 1422<br />

D 17S849 17 2502262 0. 71 0. 73 0. 75 0. 67 0. 0889<br />

D 18S462 18 2922314 0. 74 0. 79 0. 77 0. 70 0. 1266<br />

D 18S464 18 2952311 0. 52 0. 60 0. 60 0. 65 0. 2945<br />

D 18S469 18 2132225 0. 51 0. 60 0. 58 0. 79 2. 525E207<br />

D 18S478 18 2392253 0. 68 0. 78 0. 72 0. 64 0. 0956<br />

D 18S53 18 1482178 0. 79 0. 90 0. 81 0. 79 0. 6234<br />

D 18S59 18 1472167 0. 74 0. 84 0. 77 0. 81 0. 3079<br />

D 18S61 18 2052235 0. 80 0. 92 0. 82 0. 87 0. 1371<br />

D 18S64 18 3112337 0. 79 0. 84 0. 81 0. 74 0. 1105<br />

D 18S68 18 2662290 0. 80 0. 84 0. 82 0. 68 0. 0027<br />

D 19S210 19 1682186 0. 67 0. 70 0. 71 0. 74 0. 4940<br />

D 19S414 19 1622190 0. 61 0. 75 0. 64 0. 78 0. 0007<br />

D 19S420 19 812101 0. 83 0. 96 0. 84 0. 79 0. 2196<br />

D 20S107 20 1922216 0. 76 0. 78 0. 79 0. 80 0. 8026<br />

D 20S115 20 2302242 0. 59 0. 81 0. 65 0. 66 0. 8328<br />

D 20S118 20 2082224 0. 68 0. 75 0. 72 0. 82 0. 0092<br />

D 20S119 20 1042120 0. 72 0. 85 0. 76 0. 82 0. 1183<br />

D 20S178 20 1752189 0. 76 0. 88 0. 78 0. 83 0. 1832<br />

D 20S189 20 2942310 0. 49 0. 64 0. 56 0. 75 11145E205<br />

D 20S196 20 2562290 0. 83 0. 86 0. 84 0. 81 0. 4444<br />

D 21S1253 21 2652285 0. 79 0. 90 0. 81 0. 77 0. 3419<br />

D 21S263 21 1942224 0. 82 0. 85 0. 84 0. 75 0. 0377<br />

D 22S280 22 2082220 0. 75 0. 82 0. 78 0. 82 0. 2978<br />

D 22S283 22 1262152 0. 87 0. 89 0. 88 0. 89 0. 7493<br />

DXS993 X 2652289 0. 36 0. 44 0. 39 0. 79 9. 182E223<br />

3 <br />

, , <br />

139 <br />

, 0. 35 0. 89 , 88% <br />

> 0.60PIC 0. 32 0. 88, 94% PIC<br />

> 0. 50PIC> 0. 50, <br />

; 0. 50> PIC> 0. 25, <br />

; PIC< 0. 25, [6] <br />

PIC , 0170, RFLP <br />

, RFLP 2 3 , PIC<br />

0. 3DNA <br />

PCR , ,DNA , <br />

139 <br />

(CEPH) ( 2) , <br />

CEPH <br />

0165 , 6<br />

D 4S1575D 10S212D 10S591D 11S898


B07<br />

2000 4 17 2 Chin J M ed Genet, April. 2000, Vol. 17, No. 2<br />

71<br />

D 15S165DXS993 (< 0. 5) ,8<br />

PIC < 0. 5,, <br />

, D 4S1575 ( 1) ,<br />

292bp 7316% , 5 <br />

ς 2 , P 0. 05, <br />

Edwards [1] , <br />

[7] <br />

, <br />

(1) , ,<br />

1996 , 7000 , 2 <br />

, 4000cM , 017cM ,<br />

(2) <br />

<br />

, <br />

, , 1% <br />

1cM ,1cM = 110 6 bp<br />

, <br />

, <br />

, DNA (<br />

) , , 1<br />

2cM , ,<br />

(3) <br />

, , <br />

, <br />

10 12 , <br />

[8, 9] <br />

u í <br />

genetic m app ing w ith trim eric and tetram eric tandem repeats. Am J<br />

Hum Genet, 1991, 49 (4) 74627561<br />

2 WeberJL,M ayPE. A bundant class of human DNA polymorphism s<br />

w hich can be typed using the polymorphism s chain reaction. Am J<br />

Hum Genet, 1989, 44 (3) 38823961<br />

3 Kuang SQ , Wang JM, Huang W, et al. Fluorscence2based sem i2<br />

autom ated gene scan w ith m icrosatellite m arkers by m ultip lex PCR<br />

techniques. Chin J M ed Genet, 1998, 15 (2) 1042107. [, <br />

, , 1 PCR 2<br />

1 , 1998, 15 (2) 10421071]<br />

4 Reed PW , Davis JL, Copem an JB, et al. Ch rom o som e sp ecific<br />

m icrosatellite sets for fluorescence2based, sem i2autom ated genom e<br />

mapping. Nature Genet, 1994, 7 (3) 39023951<br />

5 Edwards A , Hammond HA, Jin L, et al. Genetic varition at five<br />

trim eric and tetram eric tandem repeat loci in four hum an population<br />

groups. Genom ics, 1992, 12 (2) 24122531<br />

6 Kuang SQ , Zhang YZ, Chen Z. A powerful tool for genome<br />

scanning and gene m app ing of inherited disease. Chin JM ed Genet,<br />

1997, 14 (2) 992103. [, , 1 2<br />

1 , 1997, 14 (2) <br />

9921031]<br />

7 Deka R, Chakraborty R, Decroo S, et al. Characteristics of<br />

polymorphism at a VN TR locus 3to the apolipop rotein B gene in<br />

five hum an population. Am J Hum Genet, 1992, 51 (6) 1325213331<br />

8 Hammond HA, JinL, Zhong Y, et al. Evaluation of 13 short tandem<br />

repeat loci for use in personal identification application. Am J Hum<br />

Genet, 1994, 55 (1) 17521891<br />

9 Devlin B, Risch N. A note on Hardy2W einberg equilibrium of<br />

VN TR data by using the Federal Bureau of Investigation’s Fixed2<br />

Binmethod. Am J Hum Genet, 1992, 51 (3) 54925531<br />

(: 1999203216)<br />

()<br />

1 Edwards A , Civitello A , Hammond HA, et al. DNA typ ing and

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