Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
复制标题
将严重先天性中性粒细胞减少症的基因位点分配给来自瑞典北部的原始 Kostmann 家族的染色体 1q22。
DOI：
10.1016/j.bbrc.2006.12.086
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发表时间：
2007
影响因子：
3.1
通讯作者：
Dahl,N
中科院分区：
文献类型：
--
作者：
Melin,M;Entesarian,M;Carlsson,G;Garwicz,D;Klein,C;Fadeel,B;Nordenskjöld,M;Palmblad,J;Henter,JI;Dahl,N
常染色体隐性严重先天性中性粒细胞减少症（SCN）或Kostmann综合征的特征是中性粒细胞计数减少和随后的复发性细菌感染。这种疾病最初是在瑞典北部的一个大型近亲系谱中被描述的。使用高密度单核苷酸多态性（SNP）基因分型阵列对原始家系中四个个体的样本进行全基因组自合子扫描，以便绘制疾病位点。鉴定了30个候选区域，另外两名患者的样本确定了1q22染色体上的单个单倍型与该疾病有显著关联（p<0.01）。来自原始Kostmann谱系的一个受影响个体被确认为表型。受影响个体共享的最小单倍型跨越1.2Mb的候选区域，包含几个潜在的候选基因。
Autosomal recessive severe congenital neutropenia (SCN) or Kostmann syndrome is characterised by reduced neutrophil counts and subsequent recurrent bacterial infections. The disease was originally described in a large consanguineous pedigree from Northern Sweden. A genome-wide autozygosity scan was initiated on samples from four individuals in the original pedigree using high density single nucleotide polymorphism (SNP) genotyping arrays in order to map the disease locus. Thirty candidate regions were identified and the ascertainment of samples from two additional patients confirmed a single haplotype with significant association to the disorder (p<0.01) on chromosome 1q22. One affected individual from the original Kostmann pedigree was confirmed as a phenocopy. The minimal haplotype shared by affected individuals spans a candidate region of 1.2Mb, containing several potential candidate genes.