Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
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使用 DNA 合并将全色盲与 2 号染色体进行纯合性映射。
DOI：
10.1093/hmg/6.5.689
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发表时间：
1997
影响因子：
3.5
通讯作者：
Sheffield,VC
中科院分区：
文献类型：
--
作者：
Arbour,NC;Zlotogora,J;Knowlton,RG;Merin,S;Rosenmann,A;Kanis,AB;Rokhlina,T;Stone,EM;Sheffield,VC
色盲是一种常染色体隐性视网膜疾病，临床表现为无法分辨颜色、视力受损、眼球震颤和畏光。对来自伊朗的近亲犹太人进行了全基因组的联系搜索。为了促进全基因组搜索，我们利用了DNA汇集策略，该策略利用了近亲中所有受影响个体从共同创始人遗传疾病的可能性。从所有受影响的个体中提取同等摩尔量的DNA，作为短串联重复多态性标记（STRPs）的PCR模板。从未受影响的亲属身上收集的DNA被用作对照。在受影响的人群中，与对照人群相比，在几个位点上观察到al-等位基因的数量减少。通过对个体家族成员的基因分型，在2号染色体上的标记与疾病表型之间建立了显著的联系。最高LOD评分为5.4 （θ = 0）。当另外4个不相关的小家族进行基因分型时，LOD总分的峰值为8.2。重组染色体分析表明，该疾病基因位于横跨着丝粒的30 cM间隔内。另外的精细图谱研究在所有受影响的个体中发现了一个纯合区域，将该区域缩小到14厘米。通过辐射杂交作图排除了色盲的候选基因。色盲与2号染色体的连锁是鉴定致病基因必不可少的第一步。
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish kindred from Iran. To facilitate the genome-wide search, we utilized a DNA pooling strategy which takes advantage of the likelihood that the disease in this inbred kindred is inherited by all affected individuals from a common founder. Equal molar amounts of DNA from all affected individuals were pooled and used as the PCR template for short tandem repeat polymorphic markers (STRPs). Pooled DNA from unaffected members of the kindred was used as a control. A reduction in the number of al-leles in the affected versus control pool was observed at several loci. Upon genotyping of individual family members, significant linkage was established between the disease phenotype and markers localized on chromosome 2. The highest LOD score observed was 5.4 (θ = 0). When four additional small unrelated families were genotyped, the combined peak LOD score was 8.2. Analysis of recombinant chromosomes revealed that the disease gene lies within a 30 cM interval which spans the centromere. Additional fine-mapping studies identified a region of homozygosity in all affected individuals, narrowing the region to 14 cM. A candidate gene for achromatopsia was excluded from this disease interval by radiation hybrid mapping. Linkage of achromatopsia to chromosome 2 is an essential first step in the identification of the disease-causing gene.
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GDB 人类基因组数据库，1994 年。
影响因子：
14.9
作者：
Fasman,KH;Cuticchia,AJ;Kingsbury,DT
通讯作者：
Kingsbury,DT
一个完全色盲的家庭
影响因子：
3.4
作者：
E. Holm;C. V. Lodberg
通讯作者：
C. V. Lodberg
全色盲伴弱视
影响因子：
1.4
作者：
E. Auerbach;S. Merin
通讯作者：
S. Merin
通过使用两个近交贝都因亲属的 DNA 池鉴定出常染色体隐性非综合征性听力损失基因座。
影响因子：
9.8
作者：
Scott,DA;Carmi,R;Elbedour,K;Yosefsberg,S;Stone,EM;Sheffield,VC
通讯作者：
Sheffield,VC
伊朗犹太人的遗传性疾病。
DOI：
--
发表时间：
1995
期刊：
American journal of medical genetics
影响因子：
--
作者：
J. Zlotogora
通讯作者：
J. Zlotogora