中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
1期
95-98
,共4页
周永安%马云霞%张永红%郝子琪%李雪静%石懿玉%张全斌%李鹏丽
週永安%馬雲霞%張永紅%郝子琪%李雪靜%石懿玉%張全斌%李鵬麗
주영안%마운하%장영홍%학자기%리설정%석의옥%장전빈%리붕려
遗传性多发性骨软骨瘤%基因突变%EXT1基因%EXT2基因
遺傳性多髮性骨軟骨瘤%基因突變%EXT1基因%EXT2基因
유전성다발성골연골류%기인돌변%EXT1기인%EXT2기인
Hereditary multiple exostoses%Genetic mutation%EXT1 gene%EXT2 gene
目的 对山西一个汉族遗传性多发性骨软骨瘤家系的EXT1和EXT2基因的全部外显子序列进行分析,以寻找致病突变.方法 用PCR扩增先证者EXT1和EXT2基因的全部外显子,将PCR产物送直接测序分析.结果 发现EXT1基因2种同义突变(P477P、E587E)、3种内含子突变(c.1537-48A＞G、c.1721 +203 A＞G、c.1722-103 C＞G).EXT2基因共发现5种内含子突变(c.-29-148 A＞T、c.1080-18 T＞A、c.1336-93 C＞T、c.1526-166 C＞T、c.1526-195C＞T).其中,EXT1 P477P、EXT1 E587E和EXT2 c.1080-18 T＞A为多发性骨软骨瘤突变数据库已收录的多态位点,其余7个位点尚未见报道.结论 对该家系EXT1、EXT2基因全部外显子的测序分析未发现明确的致病突变,该家系遗传性多发性骨软骨瘤的发生是否由除EXT1、EXT2外的其它EXT相关基因引起尚需进一步的连锁定位分析.
目的 對山西一箇漢族遺傳性多髮性骨軟骨瘤傢繫的EXT1和EXT2基因的全部外顯子序列進行分析,以尋找緻病突變.方法 用PCR擴增先證者EXT1和EXT2基因的全部外顯子,將PCR產物送直接測序分析.結果 髮現EXT1基因2種同義突變(P477P、E587E)、3種內含子突變(c.1537-48A＞G、c.1721 +203 A＞G、c.1722-103 C＞G).EXT2基因共髮現5種內含子突變(c.-29-148 A＞T、c.1080-18 T＞A、c.1336-93 C＞T、c.1526-166 C＞T、c.1526-195C＞T).其中,EXT1 P477P、EXT1 E587E和EXT2 c.1080-18 T＞A為多髮性骨軟骨瘤突變數據庫已收錄的多態位點,其餘7箇位點尚未見報道.結論 對該傢繫EXT1、EXT2基因全部外顯子的測序分析未髮現明確的緻病突變,該傢繫遺傳性多髮性骨軟骨瘤的髮生是否由除EXT1、EXT2外的其它EXT相關基因引起尚需進一步的連鎖定位分析.
목적 대산서일개한족유전성다발성골연골류가계적EXT1화EXT2기인적전부외현자서렬진행분석,이심조치병돌변.방법 용PCR확증선증자EXT1화EXT2기인적전부외현자,장PCR산물송직접측서분석.결과 발현EXT1기인2충동의돌변(P477P、E587E)、3충내함자돌변(c.1537-48A＞G、c.1721 +203 A＞G、c.1722-103 C＞G).EXT2기인공발현5충내함자돌변(c.-29-148 A＞T、c.1080-18 T＞A、c.1336-93 C＞T、c.1526-166 C＞T、c.1526-195C＞T).기중,EXT1 P477P、EXT1 E587E화EXT2 c.1080-18 T＞A위다발성골연골류돌변수거고이수록적다태위점,기여7개위점상미견보도.결론 대해가계EXT1、EXT2기인전부외현자적측서분석미발현명학적치병돌변,해가계유전성다발성골연골류적발생시부유제EXT1、EXT2외적기타EXT상관기인인기상수진일보적련쇄정위분석.
Objective To screen for potential mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.Methods Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 or EXT2 genes.Results For EXT1 gene,two synonymous mutations (P477P and E587E),three intronic mutations (c.1537-48 A＞G,c.1721 +203 A＞G and c.1722-103C＞G) were detected.For EXT2 gene,five intronic mutations (c.-29-148 A＞T,c.1080-18 T＞A,c.1336-93 C＞T,c.1526-166 C＞T,and c.1526-195 C＞T) were identified.Among these,EXT1 P477P,EXT1 E587E and EXT2 c.1080-18 T＞A are polymorphisms listed by Multiple Osteochondroma Mutation Database,whilst the other 7 sites have not been reported.Conclusion No mutations have been found among all exons of the EXT1 and EXT2 genes in this family.Linkage analysis is necessary to identify the cause of disease.
