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1、人肌紅蛋白?基因外顯子?一的生物信?息學分析 一． Intro?ducti?on：Myogl?obin, the artic?le is compo?sed of a pepti?de chain?s and a bindi?ng prote?in of heme prost?hetic? group?, is withi?n the muscl?e oxyge?n stora?ge prote?in, its oxyge?n satur?ation? of the ellip?tic curve?.Myogl?obin is the main prote?in of skele?tal m

2、uscl?e and cardi?ac muscl?e, when muscl?e damag?e, leaka?ge to the circu?latin?g in the blood? in muscl?e tissu?e, incre?ase the serum? conce?ntrat?ion of myogl?obin, the index? is used to deter?mine wheth?er muscl?e damag?e. 二． Purpo?se：對人肌紅蛋?白基因外顯?子一基因序?列使用 “Bioed?it和DN?AMAN、anthe?5.0”及相關網(wǎng)站?進行GC含

3、?量統(tǒng)計、電子酶切、引物設計、基因在人類?基因組中的?定位、電子克隆及?蛋白在細胞?內的定位、氨基酸組成?統(tǒng)計、分子量、等電點、親疏水性、信號肽分析?（跨膜區(qū)域）、二級結構（含保守結構?域）及三維結構?分析，miR分析?，啟動子分析?等。其中抗原表?位分析、多序列比對?和進化分析?等。 三． The natur?e and funct?ion of myogl?obin： Natur?e: myogl?obin = a polyp?eptid?e chain? + a prost?hetic? group? polyp?eptid?e chain?, compo?sed of 153 a

4、mino? acid resid?ues Prost?hetic? group?: heme prost?hetic? group? Molec?ular weigh?t: 16, 700 Funct?ion: trans?port of oxyge?n and oxyge?n stora?ge funct?ion in muscl?e terti?ary struc?ture of myogl?obin 四． Key word: 肌紅蛋白（myogl?obin） 五． Imple?ments? and metho?ds： 采用Bio?edit和?DNAMA?N分析軟件?工具和在線

5、?有關蛋白質?和核酸方面?的分析軟件?，分別進行核?酸和蛋白質?兩個方面的?分析。 核酸分析首?先從pub?med核酸?數(shù)據(jù)庫中搜?索到人的M?yoglo?bin核酸?序列，分別進行序?列的基本性?質分析，限制性酶譜?分析及其基?因在染色體?上的定位分?析。具體操作方?法將根據(jù)上?述各個軟件?上“Help”文件進行，基因在染色?體上的定位?分析根據(jù)網(wǎng)?頁上的操作?說明進行。 從pubm?ed蛋白質?數(shù)據(jù)庫中搜?索到人的M?yoglo?bin和整?個前體My?oglob?in蛋白質?序列，分別進行蛋?白序列的基?本性質分析?（氨基酸組成?、分子量、等電點），親疏水性分?析，蛋白酶切位?點分析

6、，信號肽序列?分析，二級結構和?三維結構分?析，同源序列和?進化分析。二級結構分?析包括結構?功能域、Motif?、保守位點等?，具體操作方?法將根據(jù)上?述各個軟件?上“Help”文件和網(wǎng)頁?上的操作說?明進行。 Reslu?ts: 1.從NCBI?中可以得到?一下有關M?yoglo?bi蛋白分?子的信息： Human?myogl?obingene, exon 1 GenBa?nk: M1009?0.1 LOCUS? HUMMG?I1 2552 bp DNA linea?r PRI 07-JAN-1995 DEFIN

7、?ITION? Human? myogl?obin gene, exon 1. ACCES?SION M1009?0 VERSI?ON M1009?0.1 GI:18758?0 KEYWO?RDS Fok famil?y repet?itive? seque?nce; direc?t repea?t; myogl?obin; repea?t regio?n; tande?m repea?t. SEGME?NT 1 of 3 SOURC?E Homo sapie?ns (human?) ORGAN?ISM Hom

8、o sapie?ns Eukar?yota; Metaz?oa; Chord?ata; Crani?ata; Verte?brata?; Eutel?eosto?mi; Mamma?lia; Euthe?ria; Euarc?honto?glire?s; Prima?tes; Haplo?rrhin?i; Catar?rhini?; Homin?idae; Homo. REFER?ENCE 1 (bases? 1 to 2552) AUTHO?RS Akabo?shi,E. TITLE?

9、 Cloni?ng of the human? myogl?obin gene JOURN?AL Gene 33 (3), 241-249 (1985) PUBME?D 29890?88 COMME?NT Origi?nal sourc?e text: Human?: fetal? liver? DNA (libra?ry of Lawn et al.), clone? lambd?a-HMB15?1; delta?-thala?ssemi?a leuko?cyte DNA (libra?ry of Kimu

10、r?a et al.), clone? lambd?a-HMB15?9. Draft? entry? and compu?ter-reada?ble copy of seque?nce [1] kindl?y provi?ded by E.Akabo?shi, 22-OCT-1985. A tande?m repea?t seque?nce is found? at posit?ion 142-794. Posit?ion of the mRNA cap site was deduc?ed

11、 from that of the seal myogl?obin gene (Blanc?hetot? et al. 1983). FEATU?RES Locat?ion/Quali?fiers? sourc?e 1..2552 /organ?ism="Homo sapie?ns" /mol_t?ype="genom?ic DNA" /db_xr?ef="taxon?:9606"

12、 /map="22q11?.2-qter" repea?t_reg?ion 1100..1750 /note="Fok famil?y repet?itive? eleme?nt" prim_?trans?cript? 1895..>2552 /note="myogl?obin mRNA and intro?n" gene join(1965..2552,M1460?2.1:1..2671,M1460?3

13、.1:1..501) /gene="MB" CDS join(1965..2059,M1460?2.1:1415..1637,M1460?3.1:355..501) /gene="MB" /note="myogl?obin" /codon?_star?t=1 /prote?in_id?="AAA59?595.1"

14、 /db_xr?ef="GI:38687?2" /trans?latio?n="MGLSD?GEWQL?VLNVW?GKVEA?DIPGH?GQEVL?IRLFK?GHPET?LEKF DKFKH?LKSED?EMKAS?EDLKK?HGATV?LTALG?GILKK?KGHHE?AEIKP?LAQSH?ATKHK?IPV KYLEF?ISECI?IQVLQ?SKHPG?DFGAD?AEGAM?NKALE?LFRKD?MASNY?KELGF?QG"

15、 exon <1965..2059 /gene="MB" /note="myogl?obin; G00-119-378" /numbe?r=1 intro?n 2060..>2552 /gene="MB" /note="myogl?obin intro?n A" ORIGI?N 2 bp upstr?ea

16、m of RsaI site. 1 gtact?gtatt? ttcat?tcctc? ttagt?tatct? cccta?aaaag? actct?gagtt? ccttg?aacac? 61 aggaa?ggtgt? tttat?ttgat? tttgt?tatcc? tcagc?atgta? gcagt?gtctg? acaca?cagta? 121 ggtgc?tctat? cactg?tgaga? gggat?ggatg? gatgg?gtgga? gttac?agatg? gatag?aagga? 181 tagat?

17、ggagg? gatgg?gtgga? tgatg?gatgg? ataga?tggat? ggagg?gggga? tgatg?aatgg? 241 aggga?taatg? agtgg?atgaa? tgagg?gaatg? ggtgg?atgga? tggat?ggagg? gatgg?aggaa? 301 cagat?agata? gatgg?aggga? tgggt?gggtg? atgga?tggat? agatg?gatgg? aggga?gggat? 361 gatga?atgga? gggat?aatga? atgga?tgaat?

18、gaggg?gatgg? gtgga?tggat? gaatg?gaggg? 421 atgat?gggtg? gatga?atgaa? ttgag?ggatg? gatgg?atgaa? cacat?ggatg? gatgg?ataga? 481 tggat?agatg? gagga?actgg? tggat?tttgg? atgga?tgggt? ggatg?gatag? atgaa?tgaat? 541 gcctg?gatag? acaaa?gagat? gatgg?ataga? tgaat?agatg? aatta?aggga? tgtcg?g

19、atag? 601 atgga?gggat? tgata?gatgt? tggat?ggatg? ggtgg?tggat? ggata?gatga? gtgaa?tgcat? 661 ggata?gacaa? agaga?tgatg? gatgg?atgaa? ttaag?ggatg? acaga?tggat? ggatg?gatga? 721 gtaac?tggat? ggaca?agtgg? ataaa?tggat? agatg?gttga? atacc?tgaat? ggatt?gaagg? 781 aggat?gcatg? gat

20、gt?aagat? aaggc?taatc? atcct?ccact? ctctt?tcttt? gcaaa?accat? 841 ccacc?cattt? actca?ataaa? cattt?attca? gttca?aactt? ggcac?aaagc? accat?gtgag? 901 gccca?agaga? tacgt?gggtt? aataa?aacag? agctc?ctgcc? ctcct?gaaaa? ctgca?aagaa? 961 agggg?cgtgg? cttcc?tgagt? tcaaa?tccca? actct?gcca

21、g? cgact?agctg? tacat?cagtg? 1021 atgtt?tccct? acttt?ctctc? aatta?aatag? ggata?atgtc? agtac?ctatc? acatt?gggag? 1081 gtctt?gcggg? gatta?aatga? gttac?caaat? gccaa?gtgtt? tggga?caggg? cctgg?caccc? 1141 agcaa?agtct? cttgt?gagtg? ctggc?tgcta? ttatc?ctaat? ggaga?agatg? gcatg?aaaac?

22、 1201 cagga?aatag? gatgc?ccttt? gggaa?gcaat? gcaac?aggaa? cttac?acaaa? gaaag?gaaag? 1261 gagga?agcaa? ttagt?ggtgt? ctcaa?aggag? tatgt?caaga? aaaac?ttttc? agagg?gaaac? 1321 ctttg?agcag? ggtca?tgaaa? acagg?agttc? tctaa?gagat? tgtgg?acttg? cctgg?gacca? 1381 cctgg?ctata? agcac?aaaac?

23、catcc?ggttc? ctttc?tgtca? cttct?ggcgg? gtgag?gggtc? 1441 tctgg?caaag? gggca?gaagg? tgcgt?gagag? gttgc?gaatg? gccag?gactg? tcctg?gggcc? 1501 agccg?gggca? cctgg?tggcc? aagct?tagaa? acatg?acagg? tcctc?ttggg? agggc?tgacc? 1561 gcagg?gagcg? ttggg?tttca? ggctg?ctggc? gtcgg?cttct? gtggt?g

24、ccct? ttctg?tcggc? 1621 tatga?gagtc? cagac?agtgc? ccaac?ctcct? cccct?tcttt? ccaca?cgcac? aacca?cccca? 1681 ccccc?tgtgg? cctga?gctgt? cctgc?ctcgc? cacaa?tggca? cctgc?cctaa? aatag?cttcc? 1741 catgt?gaggg? ctaga?gaaag? gaaaa?gatta? gaccc?tccct? ggatg?agaga? gagaa?agtga? 1801 agg

25、ag?ggcag? gggag?gggga? cagcg?agcca? ttgag?cgatc? tttgt?caagc? atccc?agaag? 1861 gtata?aaaac? gccct?tggga? ccagg?cagcc? tcaaa?cccca? gctgt?tgggg? ccagg?acacc? 1921 cagtg?agccc? atact?tgctc? ttttt?gtctt? cttca?gactg? cgcca?tgggg? ctcag?cgacg? 1981 gggaa?tggca? gttgg?tgctg? aacgt?ctgg

26、g? ggaag?gtgga? ggctg?acatc? ccagg?ccatg? 2041 ggcag?gaagt? cctca?tcagg? taaaa?ggaag? agatt?ccatt? gcccc?tgcca? cccac?accct? 2101 aagat?caagg? gtgtt?cagct? gcaag?gtgga? aagtt?tgcac? gtggg?gtagg? tcagt?tggct? 2161 gcatt?agtta? agggt?gttag? aacgg?tcact? tgctt?tttct? ttgct?tttaa? gtgt

27、c?aggga? 2221 ttgga?ctcag? gagag?ggaaa? ggagc?cattt? caggc?tgatg? tcagc?agctg? gagga?agcat? 2281 gagaa?tcaaa? cctag?gatgc? tcaga?gtcca? ccagg?aagaa? tttta?gaatt? ataga?cagtc? 2341 agagt?taaca? agggt?cctga? gagat?tttgt? acagc?cacct? ctctt?acagg? atgag?gacaa? 2401 aaagc?gactg?

28、agaag?gggag? gacat?ttcca? gagtc?acagc? tcatt?aaatg? ctctt?aaagt? 2461 gtcaa?ggtta? agaca?tgctc? ttcaa?gggga? gacag?atctg? gttct?agact? tggct?ctgcc? 2521 actga?gccac? tgggt?gacct? ttggg?aaggt? ac Offic?ial Symbo?l MBpro?vided? byHGNC Offic?ial Full Name myogl?obinp?rovid?ed byHGNC Pr

29、ima?ry sourc?e :HGNC:6915 Locus? tag :RP4-569D1?9.7 Seere?lated?：Ensem?bl:ENSG0?00001?98125?;HPRD:01170?;MIM:16000?0;Vega:OTTHU?MG000?00150?606 Gene type:prote?in codin?g Refse?p statu?s:REVIE?WED Organ?ism：Homo sapie?ns Linea?ge： Eukar?yota; Metaz?oa; Chord?ata; Crani?ata; Verte?brata?; Eu

30、tel?eosto?mi; Mamma?lia; Euthe?ria; Euarc?honto?glire?s; Prima?tes; Haplo?rrhin?i; Catar?rhini?; Homin?idae; Homo Also known? as：PVALB? Genom?ic conte?xt Locat?ion: 22q13?.1 Seque?nce: Chrom?osome?: 22; NC_00?0022.10 (36002?811..36019?401, compl?ement?) See MB inEpige?nomic?s,MapVi?ewer Chro

31、m?osome? 22 - NC_00?0022.10 Genom?ic regio?ns, trans?cript?s, and produ?cts Genom?icSeq?uence? Go to nucle?otide?Graph?icsFASTA?GenBa?nk NC_00?0022.10:36M..36M(22Kbp?) C Find on Seque?nce:

32、 - + Tools? Confi?gure 2. 利用Pri?mer premi?er5.0軟件對m?yoglo?bin核酸?序列進行引?物設計其結?果如下： Sense? prime?r: 5 TACTC?GTGCC?TTTCG?TACTA?GGCTC? 3 Anti-sense? prime?r: 5 ATGAG?CACGG?AAAGC?ATGAT?CCGAG? 3 3. 蛋白質序列?分析 利用ExP?ASy軟件?包對該基因?進行氨基酸?組成統(tǒng)計、分子量、等電點等分?析及磷酸化?分析