﻿                         序列表

<110>  黄欢

<120>   一种骨发育异常疾病的致病基因COL1A2突变及其检测试剂

<160>  5

<170>  SIPOSequenceListing 1.0

<210>  1
<211>  5087
<212>  DNA
<213>  人类(Homo sapiens)

<400>  1
aacgggcgcc gcggcgggga gaagacgcag agcgctgctg ggctgccggg tctcccgctt        60
ccccctcctg ctccaagggc ctcctgcatg agggcgcggt agagacccgg acccgcgccg       120
tgctcctgcc gtttcgctgc gctccgcccg ggcccggctc agccaggccc cgcggtgagc       180
catgattcgc ctcggggctc cccagacgct ggtgctgctg acgctgctcg tcgccgctgt       240
ccttcggtgt cagggccagg atgtccagga ggctggcagc tgtgtgcagg atgggcagag       300
gtataatgat aaggatgtgt ggaagccgga gccctgccgg atctgtgtct gtgacactgg       360
gactgtcctc tgcgacgaca taatctgtga agacgtgaaa gactgcctca gccctgagat       420
ccccttcgga gagtgctgcc ccatctgccc aactgacctc gccactgcca gtgggcaacc       480
aggaccaaag ggacagaaag gagaacctgg agacatcaag gatattgtag gacccaaagg       540
acctcctggg cctcagggac ctgcagggga acaaggaccc agaggggatc gtggtgacaa       600
aggtgaaaaa ggtgcccctg gacctcgtgg cagagatgga gaacctggga cccctggaaa       660
tcctggcccc cctggtcctc ccggcccccc tggtccccct ggtcttggtg gaaactttgc       720
tgcccagatg gctggaggat ttgatgaaaa ggctggtggc gcccagttgg gagtaatgca       780
aggaccaatg ggccccatgg gacctcgagg acctccaggc cctgcaggtg ctcctgggcc       840
tcaaggattt caaggcaatc ctggtgaacc tggtgaacct ggtgtctctg gtcccatggg       900
tccccgtggt cctcctggtc cccctggaaa gcctggtgat gatggtgaag ctggaaaacc       960
tggaaaagct ggtgaaaggg gtccgcctgg tcctcagggt gctcgtggtt tcccaggaac      1020
cccaggcctt cctggtgtca aaggtcacag aggttatcca ggcctggacg gtgctaaggg      1080
agaggcgggt gctcctggtg tgaagggtga gagtggttcc ccgggtgaga acggatctcc      1140
gggcccaatg ggtcctcgtg gcctgcctgg tgaaagagga cggactggcc ctgctggcgc      1200
tgcgggtgcc cgaggcaacg atggtcagcc aggccccgca gggcctccgg gtcctgtcgg      1260
tcctgctggt ggtcctggct tccctggtgc tcctggagcc aagggtgaag ccggccccac      1320
tggtgcccgt ggtcctgaag gtgctcaagg tcctcgcggt gaacctggta ctcctgggtc      1380
ccctgggcct gctggtgcct ccggtaaccc tggaacagat ggaattcctg gagccaaagg      1440
atctgctggt gctcctggca ttgctggtgc tcctggcttc cctgggccac ggggccctcc      1500
tggccctcaa ggtgcaactg gtcctctggg cccgaaaggt cagacgggtg aacctggtat      1560
tgctggcttc aaaggtgaac aaggccccaa gggagaacct ggccctgctg gcccccaggg      1620
agcccctgga cccgctggtg aagaaggcaa gagaggtgcc cgtggagagc ctggtggcgt      1680
tgggcccatc ggtccccctg gagaaagagg tgctcccggc aaccgcggtt tcccaggtca      1740
agatggtctg gcaggtccca agggagcccc tggagagcga gggcccagtg gtcttgctgg      1800
ccccaaggga gccaacggtg accctggccg tcctggagaa cctggccttc ctggagcccg      1860
gggtctcact ggccgccctg gtgatgctgg tcctcaaggc aaagttggcc cttctggagc      1920
ccctggtgaa gatggtcgtc ctggacctcc aggtcctcag ggggctcgtg ggcagcctgg      1980
tgtcatgggt ttccctggcc ccaaaggtgc caacggtgag cctggcaaag ctggtgagaa      2040
gggactgcct ggtgctcctg gtctgagggg tcttcctggc aaagatggtg agacaggtgc      2100
tgcaggaccc cctggccctg ctggacctgc tggtgaacga ggcgagcagg gtgctcctgg      2160
gccatctggg ttccagggac ttcctggccc tcctggtccc ccaggtgaag gtggaaaacc      2220
aggtgaccag ggtgttcccg gtgaagctgg agcccctggc ctcgtgggtc ccaggggtga      2280
acgaggtttc ccaggtgaac gtggctctcc cggtgcccag ggcctccagg gtccccgtgg      2340
cctccccggc actcctggca ctgatggtcc caaaggtgca tctggcccag caggcccccc      2400
tggggctcag ggccctccag gtcttcaggg aatgcctggc gagaggggag cagctggtat      2460
cgctgggccc aaaggcgaca ggggtgacgt tggtgagaaa ggccctgagg gagcccctgg      2520
aaaggatggt ggacgaggcc tgacaggtcc cattggcccc cctggcccag ctggtgctaa      2580
tggcgagaag ggagaagttg gacctcctgg tcctgcagga agtgctggtg ctcgtggcgc      2640
tccgggtgaa cgtggagaga ctgggccccc cggaccagcg ggatttgctg ggcctcctgg      2700
tgctgatggc cagcctgggg ccaagggtga gcaaggagag gccggccaga aaggcgatgc      2760
tggtgcccct ggtcctcagg gcccctctgg agcacctggg cctcagggtc ctactggagt      2820
gactggtcct aaaggagccc gaggtgccca aggccccccg ggagccactg gattccctgg      2880
agctgctggc cgcgttggac ccccaggctc caatggcaac cctggacccc ctggtccccc      2940
tggtccttct ggaaaagatg gtcccaaagg tgctcgagga gacagcggcc cccctggccg      3000
agctggtgaa cccggcctcc aaggtcctgc tggaccccct ggcgagaagg gagagcctgg      3060
agatgacggt ccctctggtg ccgaaggtcc accaggtccc cagggtctgg ctggtcagag      3120
aggcatcgtc ggtctgcctg ggcaacgtgg tgagagagga ttccctggct tgcctggccc      3180
gtcgggtgag cccggcaagc agggtgctcc tggagcatct ggagacagag gtcctcctgg      3240
ccccgtgggt cctcctggcc tgacgggtcc tgcaggtgaa cctggacgag agggaagccc      3300
cggtgctgat ggcccccctg gcagagatgg cgctgctgga gtcaagggtg atcgtggtga      3360
gactggtgct gtgggagctc ctggagcccc tgggccccct ggctcccctg gccccgctgg      3420
tccaactggc aagcaaggag acagaggaga agctggtgca caaggcccca tgggaccctc      3480
aggaccagct ggagcccggg gaatccaggg tcctcaaggc cccagaggtg acaaaggaga      3540
ggctggagag cctggcgaga gaggcctgaa gggacaccgt ggcttcactg gtctgcaggg      3600
tctgcccggc cctcctggtc cttctggaga ccaaggtgct tctggtcctg ctggtccttc      3660
tggccctaga ggtcctcctg gccccgtcgg tccctctggc aaagatggtg ctaatggaat      3720
ccctggcccc attgggcctc ctggtccccg tggacgatca ggcgaaaccg gccctgctgg      3780
tcctcctgga aatcctggac cccctggtcc tccaggtccc cctggccctg gcatcgacat      3840
gtccgccttt gctggcttag gcccgagaga gaagggcccc gaccccctgc agtacatgcg      3900
ggccgaccag gcagccggtg gcctgagaca gcatgacgcc gaggtggatg ccacactcaa      3960
gtccctcaac aaccagattg agagcatccg cagccccgag ggctcccgca agaaccctgc      4020
tcgcacctgc agagacctga aactctgcca ccctgagtgg aagagtggag actactggat      4080
tgaccccaac caaggctgca ccttggacgc catgaaggtt ttctgcaaca tggagactgg      4140
cgagacttgc gtctacccca atccagcaaa cgttcccaag aagaactggt ggagcagcaa      4200
gagcaaggag aagaaacaca tctggtttgg agaaaccatc aatggtggct tccatttcag      4260
ctatggagat gacaatctgg ctcccaacac tgccaacgtc cagatgacct tcctacgcct      4320
gctgtccacg gaaggctccc agaacatcac ctaccactgc aagaacagca ttgcctatct      4380
ggacgaagca gctggcaacc tcaagaaggc cctgctcatc cagggctcca atgacgtgga      4440
gatccgggca gagggcaata gcaggttcac gtacactgcc ctgaaggatg gctgcacgaa      4500
acataccggt aagtggggca agactgttat cgagtaccgg tcacagaaga cctcacgcct      4560
ccccatcatt gacattgcac ccatggacat aggagggccc gagcaggaat tcggtgtgga      4620
catagggccg gtctgcttct tgtaaaaacc tgaacccaga aacaacacaa tccgttgcaa      4680
acccaaagga cccaagtact ttccaatctc agtcactcta ggactctgca ctgaatggct      4740
gacctgacct gatgtccatt catcccaccc tctcacagtt cggacttttc tcccctctct      4800
ttctaagaga cctgaactgg gcagactgca aaataaaatc tcggtgttct atttatttat      4860
tgtcttcctg taagaccttc gggtcaaggc agaggcagga aactaactgg tgtgagtcaa      4920
atgccccctg agtgactgcc cccagcccag gccagaagac ctcccttcag gtgccgggcg      4980
caggaactgt gtgtgtccta cacaatggtg ctattctgtg tcaaacacct ctgtattttt      5040
taaaacatca attgatatta aaaatgaaaa gattattgga aagtaca                    5087

<210>  2
<211>  1487
<212>  PRT
<213>  人类(Homo sapiens)

<400>  2
Met Ile Arg Leu Gly Ala Pro Gln Thr Leu Val Leu Leu Thr Leu Leu 
1               5                   10                  15      
Val Ala Ala Val Leu Arg Cys Gln Gly Gln Asp Val Gln Glu Ala Gly 
            20                  25                  30          
Ser Cys Val Gln Asp Gly Gln Arg Tyr Asn Asp Lys Asp Val Trp Lys 
        35                  40                  45              
Pro Glu Pro Cys Arg Ile Cys Val Cys Asp Thr Gly Thr Val Leu Cys 
    50                  55                  60                  
Asp Asp Ile Ile Cys Glu Asp Val Lys Asp Cys Leu Ser Pro Glu Ile 
65                  70                  75                  80  
Pro Phe Gly Glu Cys Cys Pro Ile Cys Pro Thr Asp Leu Ala Thr Ala 
                85                  90                  95      
Ser Gly Gln Pro Gly Pro Lys Gly Gln Lys Gly Glu Pro Gly Asp Ile 
            100                 105                 110         
Lys Asp Ile Val Gly Pro Lys Gly Pro Pro Gly Pro Gln Gly Pro Ala 
        115                 120                 125             
Gly Glu Gln Gly Pro Arg Gly Asp Arg Gly Asp Lys Gly Glu Lys Gly 
    130                 135                 140                 
Ala Pro Gly Pro Arg Gly Arg Asp Gly Glu Pro Gly Thr Pro Gly Asn 
145                 150                 155                 160 
Pro Gly Pro Pro Gly Pro Pro Gly Pro Pro Gly Pro Pro Gly Leu Gly 
                165                 170                 175     
Gly Asn Phe Ala Ala Gln Met Ala Gly Gly Phe Asp Glu Lys Ala Gly 
            180                 185                 190         
Gly Ala Gln Leu Gly Val Met Gln Gly Pro Met Gly Pro Met Gly Pro 
        195                 200                 205             
Arg Gly Pro Pro Gly Pro Ala Gly Ala Pro Gly Pro Gln Gly Phe Gln 
    210                 215                 220                 
Gly Asn Pro Gly Glu Pro Gly Glu Pro Gly Val Ser Gly Pro Met Gly 
225                 230                 235                 240 
Pro Arg Gly Pro Pro Gly Pro Pro Gly Lys Pro Gly Asp Asp Gly Glu 
                245                 250                 255     
Ala Gly Lys Pro Gly Lys Ala Gly Glu Arg Gly Pro Pro Gly Pro Gln 
            260                 265                 270         
Gly Ala Arg Gly Phe Pro Gly Thr Pro Gly Leu Pro Gly Val Lys Gly 
        275                 280                 285             
His Arg Gly Tyr Pro Gly Leu Asp Gly Ala Lys Gly Glu Ala Gly Ala 
    290                 295                 300                 
Pro Gly Val Lys Gly Glu Ser Gly Ser Pro Gly Glu Asn Gly Ser Pro 
305                 310                 315                 320 
Gly Pro Met Gly Pro Arg Gly Leu Pro Gly Glu Arg Gly Arg Thr Gly 
                325                 330                 335     
Pro Ala Gly Ala Ala Gly Ala Arg Gly Asn Asp Gly Gln Pro Gly Pro 
            340                 345                 350         
Ala Gly Pro Pro Gly Pro Val Gly Pro Ala Gly Gly Pro Gly Phe Pro 
        355                 360                 365             
Gly Ala Pro Gly Ala Lys Gly Glu Ala Gly Pro Thr Gly Ala Arg Gly 
    370                 375                 380                 
Pro Glu Gly Ala Gln Gly Pro Arg Gly Glu Pro Gly Thr Pro Gly Ser 
385                 390                 395                 400 
Pro Gly Pro Ala Gly Ala Ser Gly Asn Pro Gly Thr Asp Gly Ile Pro 
                405                 410                 415     
Gly Ala Lys Gly Ser Ala Gly Ala Pro Gly Ile Ala Gly Ala Pro Gly 
            420                 425                 430         
Phe Pro Gly Pro Arg Gly Pro Pro Gly Pro Gln Gly Ala Thr Gly Pro 
        435                 440                 445             
Leu Gly Pro Lys Gly Gln Thr Gly Glu Pro Gly Ile Ala Gly Phe Lys 
    450                 455                 460                 
Gly Glu Gln Gly Pro Lys Gly Glu Pro Gly Pro Ala Gly Pro Gln Gly 
465                 470                 475                 480 
Ala Pro Gly Pro Ala Gly Glu Glu Gly Lys Arg Gly Ala Arg Gly Glu 
                485                 490                 495     
Pro Gly Gly Val Gly Pro Ile Gly Pro Pro Gly Glu Arg Gly Ala Pro 
            500                 505                 510         
Gly Asn Arg Gly Phe Pro Gly Gln Asp Gly Leu Ala Gly Pro Lys Gly 
        515                 520                 525             
Ala Pro Gly Glu Arg Gly Pro Ser Gly Leu Ala Gly Pro Lys Gly Ala 
    530                 535                 540                 
Asn Gly Asp Pro Gly Arg Pro Gly Glu Pro Gly Leu Pro Gly Ala Arg 
545                 550                 555                 560 
Gly Leu Thr Gly Arg Pro Gly Asp Ala Gly Pro Gln Gly Lys Val Gly 
                565                 570                 575     
Pro Ser Gly Ala Pro Gly Glu Asp Gly Arg Pro Gly Pro Pro Gly Pro 
            580                 585                 590         
Gln Gly Ala Arg Gly Gln Pro Gly Val Met Gly Phe Pro Gly Pro Lys 
        595                 600                 605             
Gly Ala Asn Gly Glu Pro Gly Lys Ala Gly Glu Lys Gly Leu Pro Gly 
    610                 615                 620                 
Ala Pro Gly Leu Arg Gly Leu Pro Gly Lys Asp Gly Glu Thr Gly Ala 
625                 630                 635                 640 
Ala Gly Pro Pro Gly Pro Ala Gly Pro Ala Gly Glu Arg Gly Glu Gln 
                645                 650                 655     
Gly Ala Pro Gly Pro Ser Gly Phe Gln Gly Leu Pro Gly Pro Pro Gly 
            660                 665                 670         
Pro Pro Gly Glu Gly Gly Lys Pro Gly Asp Gln Gly Val Pro Gly Glu 
        675                 680                 685             
Ala Gly Ala Pro Gly Leu Val Gly Pro Arg Gly Glu Arg Gly Phe Pro 
    690                 695                 700                 
Gly Glu Arg Gly Ser Pro Gly Ala Gln Gly Leu Gln Gly Pro Arg Gly 
705                 710                 715                 720 
Leu Pro Gly Thr Pro Gly Thr Asp Gly Pro Lys Gly Ala Ser Gly Pro 
                725                 730                 735     
Ala Gly Pro Pro Gly Ala Gln Gly Pro Pro Gly Leu Gln Gly Met Pro 
            740                 745                 750         
Gly Glu Arg Gly Ala Ala Gly Ile Ala Gly Pro Lys Gly Asp Arg Gly 
        755                 760                 765             
Asp Val Gly Glu Lys Gly Pro Glu Gly Ala Pro Gly Lys Asp Gly Gly 
    770                 775                 780                 
Arg Gly Leu Thr Gly Pro Ile Gly Pro Pro Gly Pro Ala Gly Ala Asn 
785                 790                 795                 800 
Gly Glu Lys Gly Glu Val Gly Pro Pro Gly Pro Ala Gly Ser Ala Gly 
                805                 810                 815     
Ala Arg Gly Ala Pro Gly Glu Arg Gly Glu Thr Gly Pro Pro Gly Pro 
            820                 825                 830         
Ala Gly Phe Ala Gly Pro Pro Gly Ala Asp Gly Gln Pro Gly Ala Lys 
        835                 840                 845             
Gly Glu Gln Gly Glu Ala Gly Gln Lys Gly Asp Ala Gly Ala Pro Gly 
    850                 855                 860                 
Pro Gln Gly Pro Ser Gly Ala Pro Gly Pro Gln Gly Pro Thr Gly Val 
865                 870                 875                 880 
Thr Gly Pro Lys Gly Ala Arg Gly Ala Gln Gly Pro Pro Gly Ala Thr 
                885                 890                 895     
Gly Phe Pro Gly Ala Ala Gly Arg Val Gly Pro Pro Gly Ser Asn Gly 
            900                 905                 910         
Asn Pro Gly Pro Pro Gly Pro Pro Gly Pro Ser Gly Lys Asp Gly Pro 
        915                 920                 925             
Lys Gly Ala Arg Gly Asp Ser Gly Pro Pro Gly Arg Ala Gly Glu Pro 
    930                 935                 940                 
Gly Leu Gln Gly Pro Ala Gly Pro Pro Gly Glu Lys Gly Glu Pro Gly 
945                 950                 955                 960 
Asp Asp Gly Pro Ser Gly Ala Glu Gly Pro Pro Gly Pro Gln Gly Leu 
                965                 970                 975     
Ala Gly Gln Arg Gly Ile Val Gly Leu Pro Gly Gln Arg Gly Glu Arg 
            980                 985                 990         
Gly Phe Pro Gly Leu Pro Gly Pro  Ser Gly Glu Pro Gly  Lys Gln Gly 
        995                 1000                 1005             
Ala Pro  Gly Ala Ser Gly Asp  Arg Gly Pro Pro Gly  Pro Val Gly Pro 
    1010                 1015                 1020                 
Pro  Gly Leu Thr Gly Pro  Ala Gly Glu Pro Gly  Arg Glu Gly Ser Pro  
1025                 1030                 1035                 1040 
Gly Ala Asp Gly Pro  Pro Gly Arg Asp Gly  Ala Ala Gly Val Lys  Gly 
                1045                 1050                 1055     
Asp Arg Gly Glu  Thr Gly Ala Val Gly  Ala Pro Gly Ala Pro  Gly Pro 
            1060                 1065                 1070         
Pro Gly Ser  Pro Gly Pro Ala Gly  Pro Thr Gly Lys Gln  Gly Asp Arg 
        1075                 1080                 1085             
Gly Glu  Ala Gly Ala Gln Gly  Pro Met Gly Pro Ser  Gly Pro Ala Gly 
    1090                 1095                 1100                 
Ala  Arg Gly Ile Gln Gly  Pro Gln Gly Pro Arg  Gly Asp Lys Gly Glu  
1105                 1110                 1115                 1120 
Ala Gly Glu Pro Gly  Glu Arg Gly Leu Lys  Gly His Arg Gly Phe  Thr 
                1125                 1130                 1135     
Gly Leu Gln Gly  Leu Pro Gly Pro Pro  Gly Pro Ser Gly Asp  Gln Gly 
            1140                 1145                 1150         
Ala Ser Gly  Pro Ala Gly Pro Ser  Gly Pro Arg Gly Pro  Pro Gly Pro 
        1155                 1160                 1165             
Val Gly  Pro Ser Gly Lys Asp  Gly Ala Asn Gly Ile  Pro Gly Pro Ile 
    1170                 1175                 1180                 
Gly  Pro Pro Gly Pro Arg  Gly Arg Ser Gly Glu  Thr Gly Pro Ala Gly  
1185                 1190                 1195                 1200 
Pro Pro Gly Asn Pro  Gly Pro Pro Gly Pro  Pro Gly Pro Pro Gly  Pro 
                1205                 1210                 1215     
Gly Ile Asp Met  Ser Ala Phe Ala Gly  Leu Gly Pro Arg Glu  Lys Gly 
            1220                 1225                 1230         
Pro Asp Pro  Leu Gln Tyr Met Arg  Ala Asp Gln Ala Ala  Gly Gly Leu 
        1235                 1240                 1245             
Arg Gln  His Asp Ala Glu Val  Asp Ala Thr Leu Lys  Ser Leu Asn Asn 
    1250                 1255                 1260                 
Gln  Ile Glu Ser Ile Arg  Ser Pro Glu Gly Ser  Arg Lys Asn Pro Ala  
1265                 1270                 1275                 1280 
Arg Thr Cys Arg Asp  Leu Lys Leu Cys His  Pro Glu Trp Lys Ser  Gly 
                1285                 1290                 1295     
Asp Tyr Trp Ile  Asp Pro Asn Gln Gly  Cys Thr Leu Asp Ala  Met Lys 
            1300                 1305                 1310         
Val Phe Cys  Asn Met Glu Thr Gly  Glu Thr Cys Val Tyr  Pro Asn Pro 
        1315                 1320                 1325             
Ala Asn  Val Pro Lys Lys Asn  Trp Trp Ser Ser Lys  Ser Lys Glu Lys 
    1330                 1335                 1340                 
Lys  His Ile Trp Phe Gly  Glu Thr Ile Asn Gly  Gly Phe His Phe Ser  
1345                 1350                 1355                 1360 
Tyr Gly Asp Asp Asn  Leu Ala Pro Asn Thr  Ala Asn Val Gln Met  Thr 
                1365                 1370                 1375     
Phe Leu Arg Leu  Leu Ser Thr Glu Gly  Ser Gln Asn Ile Thr  Tyr His 
            1380                 1385                 1390         
Cys Lys Asn  Ser Ile Ala Tyr Leu  Asp Glu Ala Ala Gly  Asn Leu Lys 
        1395                 1400                 1405             
Lys Ala  Leu Leu Ile Gln Gly  Ser Asn Asp Val Glu  Ile Arg Ala Glu 
    1410                 1415                 1420                 
Gly  Asn Ser Arg Phe Thr  Tyr Thr Ala Leu Lys  Asp Gly Cys Thr Lys  
1425                 1430                 1435                 1440 
His Thr Gly Lys Trp  Gly Lys Thr Val Ile  Glu Tyr Arg Ser Gln  Lys 
                1445                 1450                 1455     
Thr Ser Arg Leu  Pro Ile Ile Asp Ile  Ala Pro Met Asp Ile  Gly Gly 
            1460                 1465                 1470         
Pro Glu Gln  Glu Phe Gly Val Asp  Ile Gly Pro Val Cys  Phe Leu 
        1475                 1480                 1485         

<210>  3
<211>  20
<212>  DNA
<213>  人工序列(Artificial Sequence)

<400>  3
tggacttagc tcatgcagat                                                    20

<210>  4
<211>  17
<212>  DNA
<213>  人工序列(Artificial Sequence)

<400>  4
tggattgggg tagacgc                                                       17

<210>  5
<211>  21
<212>  DNA
<213>  人工序列(Artificial Sequence)

<400>  5
aaggttttct gcaacatgga g                                                  21

