多民族研究人群中HSPA1A和HSPA1B的序列分析。
Sequence analysis of HSPA1A and HSPA1B in a multi-ethnic study population.
作者信息
Smith Richard S, Meyers Deborah A, Peters Stephen P, Moore Wendy C, Wenzel Sally A, Bleecker Eugene R, Hawkins Gregory A
机构信息
Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA.
出版信息
DNA Seq. 2007 Feb;18(1):47-53. doi: 10.1080/10425170601060707.
Two copies of the Hsp70 gene, HSPA1A and HSPA1B, are located on chromosome 6p21. The coding regions of HSPA1A and HSPAIB are intronless and nearly identical, however, promoter and 3' UTR sequences are different. The coding regions and putative promoter regions of HSPAIA and HSPAIB were re-sequenced in an affected and unaffected asthma screening panel of US Caucasians, African Americans, and US Hispanics (n = 72) to identify polymorphisms. HSPAIA and HSPAIB were each amplified in two separate whole-gene fragments. The polymorphisms identified were compared to those reported in dbSNP. Nine polymorphisms (one novel) were identified in HSPAIA, five of which are coding. Fourteen polymorphisms (five novel) were identified in HSPAIB, five of which are coding. One polymorphism (Asp110Glu GAG > GAC) was found in both genes. Two-thirds of the polymorphisms reported in dbSNP were not identified in our screening panel. Although similar in sequence, HSPAIA and HSPAIB do not share common patterns of polymorphisms.
热休克蛋白70（Hsp70）基因的两个拷贝，即HSPA1A和HSPA1B，位于6号染色体的6p21区域。HSPA1A和HSPA1B的编码区没有内含子且几乎完全相同，然而，其启动子和3'非翻译区（UTR）序列有所不同。对美国白种人、非裔美国人以及美国西班牙裔的哮喘筛查队列（n = 72，包括患病和未患病个体）中的HSPA1A和HSPA1B的编码区及假定的启动子区域进行重测序，以鉴定多态性。HSPA1A和HSPA1B分别在两个独立的全基因片段中进行扩增。将鉴定出的多态性与dbSNP中报道的多态性进行比较。在HSPA1A中鉴定出9个多态性（1个为新发现），其中5个为编码区多态性。在HSPA1B中鉴定出14个多态性（5个为新发现），其中5个为编码区多态性。在两个基因中均发现了一个多态性（Asp110Glu，GAG > GAC）。在我们的筛查队列中未鉴定出dbSNP中报道的三分之二的多态性。尽管HSPA1A和HSPA1B在序列上相似，但它们并不共享多态性的共同模式。
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