Discovery of rare homozygous mutations from studies of consanguineous pedigrees [0.03%]
近亲婚配系谱研究发现罕见纯合突变
Fowzan S Alkuraya
Fowzan S Alkuraya
The unmasking of recessive mutations by virtue of biparental inheritance of the same ancestral haplotype on which they reside (autozygosity) has provided human geneticists with one of their most powerful tools in unraveling the genetic basi...
Olaf A Bodamer,Angela Dajnoki
Olaf A Bodamer
Pompe disease is a lysosomal storage disorder caused by a deficiency of acid alpha glucosidase (GAA). Diagnosis of Pompe disease is typically based on an enzyme analysis of blood or tissues, such as fibroblasts, followed by confirmation thr...
Christopher I Amos,Audrey Schnell,Wei V Chen et al.
Christopher I Amos et al.
This unit covers statistical methods of linkage analysis that do not require the assumption of a detailed genetic model, as is required for standard lod score analysis. The unit has been updated to include the latest methods in sib-pair ana...
Patricia Minehart Miron
Patricia Minehart Miron
Amniotic fluid obtained via amniocentesis provides a source of fetal material used in prenatal diagnosis. The fluid is used directly for biochemical analyses and as a source of fetal cells for biochemical assays, DNA testing, and chromosome...
Oligonucleotide microarrays for clinical diagnosis of copy number variation and zygosity status [0.03%]
用于临床诊断拷贝数变化和合子性的寡核苷酸微阵列技术
David T Miller,Yiping Shen,Bai-Lin Wu
David T Miller
Detection of submicroscopic genomic copy number variation is now considered the first-tier clinical test-in place of standard G-banded karyotyping-in the evaluation of children with unexplained developmental delay, intellectual disability, ...
Morphology antibody chromosome technique for determining phenotype and genetic status of the same cell [0.03%]
形态抗体染色体技术判断同一细胞表型和基因状态
Sakari Knuutila,Satu Mustjoki
Sakari Knuutila
The morphology antibody chromosome (MAC) technique is a combination of methods that permits analysis of both phenotypic and genetic evaluation on a single interphase or mitotic cell as a basis for lineage analysis of neoplastic and normal c...
Molecular analysis of the human mitochondrial DNA control region for forensic identity testing [0.03%]
用于法医身份鉴定的人体线粒体DNA控制区的分子分析
Mitchell M Holland
Mitchell M Holland
This unit highlights methods used to perform PCR amplification and sequence analysis of mitochondrial DNA (mtDNA) on pristine and highly degraded biological material. The focus is on applications to forensic casework, and a number of case e...
Dana B Hancock,William K Scott
Dana B Hancock
This unit provides an overview of the design and analysis of population-based case-control studies of genetic risk factors for complex disease. Considerations specific to genetic studies are emphasized. The unit reviews basic study designs ...
Searching Online Mendelian Inheritance in Man (OMIM) for information on genetic loci involved in human disease [0.03%]
在Online Mendelian Inheritance in Man（OMIM）中寻找参与人类疾病基因位点的信息
Andreas D Baxevanis
Andreas D Baxevanis
Online Mendelian Inheritance in Man (OMIM) is a comprehensive compendium of information on human genes and genetic disorders, with a particular emphasis on the interplay between observed phenotypes and underlying genotypes. This unit focuse...
Searching for non-B DNA-forming motifs using nBMST (non-B DNA motif search tool) [0.03%]
利用nBMST（非B-DNA模体搜索工具）寻找非B- DNA形成模体
R Z Cer,K H Bruce,D E Donohue et al.
R Z Cer et al.
This unit describes basic protocols on using the non-B DNA Motif Search Tool (nBMST) to search for sequence motifs predicted to form alternative DNA conformations that differ from the canonical right-handed Watson-Crick double-helix, collec...