基因序列.doc

1、珠蛋白基因突变类型：（一） 单个碱基替代：例：镰状细胞贫血（sickle cell anemia ）,是由 基因第一个外显子上第六位密码子由 GAG突变为 GTG，使其编码的蛋白由谷氨酸变成缬氨酸导致的。（二）移码突变：例：Hb Wayne，是由于 基因第 138 位的密码子 TCC 丢失了一个 C，导致密码子重组位移，使第 142 位的终止密码子 UAA 变为可读密码子 AAG，导致编码肽链延长为 146 氨基酸。（三）密码子的缺失和嵌入：例：Hb Gum Hiu 是由于 基因上丢失 9196 位密码子导致。（四）无义突变： 例：Hb Mckees-Rock145AAG UAU CAC UA

2、A赖-酪-组-终止AAG UAA CAC UAA赖-终止（五）终止密码子突变：例：Hb Constant Spring142CGU UAA CGU CAA GCU- UAA精-终止 精-谷胺-丙-谷（六）基因缺失（七）融合基因例：Hb Lepore(注：以下基因序列中蓝色标注的分别为 alpha1 和 alpha2 以及 beta基因序列的外显子)Homo sapiens alpha globin region (HBA); and hemoglobin, alpha 1 (HBA1); and hemoglobin, alpha 2 (HBA2); and hemoglobin, mu (H

3、BM); and hemoglobin, theta 1 (HBQ1); and hemoglobin, zeta (HBZ), RefSeqGene on chromosome 16LOCUS NG_000006 43058 bp DNA linear PRI 12-MAR-2011DEFINITION Homo sapiens alpha globin region (HBA); and hemoglobin, alpha 1(HBA1); and hemoglobin, alpha 2 (HBA2); and hemoglobin, mu (HBM);and hemoglobin, th

4、eta 1 (HBQ1); and hemoglobin, zeta (HBZ),RefSeqGene on chromosome 16.source 1.43058/organism=“Homo sapiens“/mol_type=“genomic DNA“/db_xref=“taxon:9606“/chromosome=“16“/map=“16p13.3“gene 13718.15368/gene=“HBZ“/note=“hemoglobin, zeta“/db_xref=“GeneID:3050“/db_xref=“HGNC:4835“/db_xref=“MIM:142310“mRNA

5、join(13718.13867,14755.14959,15135.15368)/gene=“HBZ“/product=“hemoglobin, zeta“/transcript_id=“NM_005332.2“/db_xref=“GI:6633805“/db_xref=“GeneID:3050“/db_xref=“HGNC:4835“/db_xref=“MIM:142310“exon 13718.13867/gene=“HBZ“/inference=“alignment:Splign:1.39.8“/number=1CDS join(13773.13867,14755.14959,1513

6、5.15263)/gene=“HBZ“/note=“hemoglobin subunit zeta; HBAZ; zeta-globin;hemoglobin zeta chain“/codon_start=1/product=“hemoglobin subunit zeta“/protein_id=“NP_005323.1“/db_xref=“GI:4885397“/db_xref=“CCDS:CCDS10397.1“/db_xref=“GeneID:3050“/db_xref=“HGNC:4835“/db_xref=“MIM:142310“exon 14755.14959/gene=“HB

7、Z“/inference=“alignment:Splign:1.39.8“/number=2exon 15135.15368/gene=“HBZ“/inference=“alignment:Splign:1.39.8“/number=3gene 26837.27631/gene=“HBM“/gene_synonym=“HBAP2“/note=“hemoglobin, mu; alpha globin pseudogene 2“/db_xref=“GeneID:3042“/db_xref=“HGNC:4826“/db_xref=“MIM:609639“mRNA join(26837.26952

8、,27131.27335,27443.27631)/gene=“HBM“/gene_synonym=“HBAP2“/product=“hemoglobin, mu“/transcript_id=“NM_001003938.3“/db_xref=“GI:94538363“/db_xref=“GeneID:3042“/db_xref=“HGNC:4826“/db_xref=“MIM:609639“exon 26837.26952/gene=“HBM“/gene_synonym=“HBAP2“/inference=“alignment:Splign:1.39.8“/number=1CDS join(

9、26861.26952,27131.27335,27443.27571)/gene=“HBM“/gene_synonym=“HBAP2“/note=“hemoglobin, alpha pseudogene 2; alpha globinpseudogene 2; hemoglobin subunit mu; hemoglobin mu chain;mu-globin“/codon_start=1/product=“hemoglobin subunit mu“/protein_id=“NP_001003938.1“/db_xref=“GI:51510893“/db_xref=“CCDS:CCD

10、S32347.1“/db_xref=“GeneID:3042“/db_xref=“HGNC:4826“/db_xref=“MIM:609639“exon 27131.27335/gene=“HBM“/gene_synonym=“HBAP2“/inference=“alignment:Splign:1.39.8“/number=2exon 27443.27631/gene=“HBM“/gene_synonym=“HBAP2“/inference=“alignment:Splign:1.39.8“/number=3gene 33710.34573/gene=“HBA2“/note=“hemoglo

11、bin, alpha 2“/db_xref=“GeneID:3040“/db_xref=“HGNC:4824“/db_xref=“MIM:141850“mRNA join(33710.33870,33988.34192,34335.34573)/gene=“HBA2“/product=“hemoglobin, alpha 2“/transcript_id=“NM_000517.4“/db_xref=“GI:172072689“/db_xref=“GeneID:3040“/db_xref=“HGNC:4824“/db_xref=“MIM:141850“exon 33710.33870/gene=

12、“HBA2“/inference=“alignment:Splign:1.39.8“/number=1CDS join(33776.33870,33988.34192,34335.34463)/gene=“HBA2“/note=“hemoglobin subunit alpha; alpha globin; alpha-2globin; alpha-globin; hemoglobin alpha chain“/codon_start=1/product=“hemoglobin subunit alpha“/protein_id=“NP_000508.1“/db_xref=“GI:450434

13、5“/db_xref=“CCDS:CCDS10398.1“/db_xref=“GeneID:3040“/db_xref=“HGNC:4824“/db_xref=“MIM:141850“exon 33988.34192/gene=“HBA2“/inference=“alignment:Splign:1.39.8“/number=2exon 34335.34573/gene=“HBA2“/inference=“alignment:Splign:1.39.8“/number=3gene 37543.38384/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MG

14、C126897“/note=“hemoglobin, alpha 1“/db_xref=“GeneID:3039“/db_xref=“HGNC:4823“/db_xref=“MIM:141800“mRNA join(37543.37674,37792.37996,38146.38384)/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MGC126897“/product=“hemoglobin, alpha 1“/transcript_id=“NM_000558.3“/db_xref=“GI:14456711“/db_xref=“GeneID:3039“

15、/db_xref=“HGNC:4823“/db_xref=“MIM:141800“exon 37543.37674/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MGC126897“/inference=“alignment:Splign:1.39.8“/number=1CDS join(37580.37674,37792.37996,38146.38274)/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MGC126897“/note=“hemoglobin subunit alpha; alpha one gl

16、obin;hemoglobin alpha 1 globin chain; alpha-1 globin;hemoglobin alpha-1 chain; alpha-1-globin; alpha-globin;hemoglobin alpha chain“/codon_start=1/product=“hemoglobin subunit alpha“/protein_id=“NP_000549.1“/db_xref=“GI:4504347“/db_xref=“CCDS:CCDS10399.1“/db_xref=“GeneID:3039“/db_xref=“HGNC:4823“/db_x

17、ref=“MIM:141800“exon 37792.37996/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MGC126897“/inference=“alignment:Splign:1.39.8“/number=2exon 38146.38384/gene=“HBA1“/gene_synonym=“CD31; MGC126895; MGC126897“/inference=“alignment:Splign:1.39.8“/number=3gene 41197.42042/gene=“HBQ1“/note=“hemoglobin, theta 1

18、; Alternative location“/db_xref=“GeneID:3049“/db_xref=“HGNC:4833“/db_xref=“MIM:142240“mRNA join(41197.41444,41529.41733,41843.42042)/gene=“HBQ1“/product=“hemoglobin, theta 1“/transcript_id=“NM_005331.4“/db_xref=“GI:313482798“/db_xref=“GeneID:3049“/db_xref=“HGNC:4833“/db_xref=“MIM:142240“exon 41197.4

19、1444/gene=“HBQ1“/inference=“alignment:Splign:1.39.8“/number=1CDS join(41350.41444,41529.41733,41843.41971)/gene=“HBQ1“/note=“hemoglobin subunit theta-1; theta-1-globin;hemoglobin theta-1 chain“/codon_start=1/product=“hemoglobin subunit theta-1“/protein_id=“NP_005322.1“/db_xref=“GI:4885395“/db_xref=“

20、CCDS:CCDS10400.1“/db_xref=“GeneID:3049“/db_xref=“HGNC:4833“/db_xref=“MIM:142240“exon 41529.41733/gene=“HBQ1“/inference=“alignment:Splign:1.39.8“/number=2exon 41843.42042/gene=“HBQ1“/inference=“alignment:Splign:1.39.8“/number=3ORIGIN 1 gatcacgcca ttgcactcca ccctgggcga cagagcgacg agaccccgta tcaaaaaaaa

21、61 aaaaaagaaa gaaagaaaga aaaaagaaaa aaaaaaggcc gggcgcggtg gctcacgcct121 gtaatcccag cactttggga ggccgaggcg ggtgaatcac gaggtcagga gttcgagacc181 atcctggcca acatggtgaa accccgtctc tacaaaaaaa aaaaaaaaaa ttagccgggc241 gtggtggcgg gcgcctgtaa tcccagctac tcgggaggct gagacaggaa aatcgcttga301 acccgggagg cggagcttgc

22、 ggtgagccga gattgcgcca ctgcactaca gcctaggcga361 cagagcgaga ctccgtctca aaaaaaaaaa aaaaaaaaaa aaacacttgg aagccgacag421 gagatctttg agaccttggg cgaggcagtg acactaaagg caggagcgac tacagaagaa481 taaattaaac ttcatcagat taaaaacttt actgcggccg ggcgcggtgg ctcacgcctg541 aaatcccagc actttgggag gccgaggtgg gcagatcatg a

23、gatcaggag atctagacca601 tcctggccaa catggtaaaa ccccgtctct ctactaaaaa tacaaaaatt agctgggttt661 ggcggcgcct gcttctaatc ccagctactc gggaggctga ggcaggagaa tcgcttgaag721 ccgggaggcg gaggttgcag tgagccgaga tcgtgccact gaactctggc ctggcgacag781 agcgagactc catctcaaaa caaaacaaaa acttcggtgc tttaaaggac accatcaaga841

24、aaattaaaag tccacccaca gaacgggaga aaatatttgt aagttacata tctgataagg901 gaattgtatc tagaatggag gaaacttaca actcaacaat aaaaagacaa ttgaaaaatg961 cacaaaggat atgaatattt ttccagtgca ttatgcaaat ggccaataag caccagaaga1021 tgctcagctc aactggtaga ggcttacgcc tgtgacccca gcgctgagag gccaggaact1081 ccagaccagc ctgggcaaaa

25、cagaaattaa aaatgctcaa cattattagg cattagggag1141 atgcaaatca aaactacaaa tagatgccac atcacacctc ctacgatggc tgtaatcaaa1201 aagacaagcg tcagcagggg tgtggagaaa cgggaatctc tctcctgctg gtgggaatgt1261 aagaggctac actcgctatg gaaaacaggc tggcagttcc tgaaaggtta gagttaacac1321 aacactcggc aaatccccct tttagatata tagccaaga

26、g aaatgaaagc atatgtccac1381 acaaaaacat gtgtgttctt agtaatatta ttcataatag cccaaagtgg aagcaatcct1441 agggtatatc aattgatgaa tgggtgaata tggtatagtt tgtttaaggg aatactattc1501 agccataaaa aggaatgaag tacggcacat gaatccatct tgaagacaca ctaatatatg1561 attccattta tataagatgc ccagaatagg caaatccata gagacagaat gattagtggc1621 tgcctagggc ttccaggggg tcaggggaaa tatggagcga ttcatgggtt ttttgaaggg1681 gagtgatgaa aatgttctaa cgttgactgt ggtaatggtt ggacagctct gagaacgcga1741 atacactaaa agacatggaa gtgccgggcg cagtggctca tgcctgtaat cccagcgctt