遗传学实验技术

The polymerase chain reaction (PCR), which can exponentially replicate a target DNA sequence, has formed the basis for the sensitive and direct examination of clinical samples for evidence of infection. During the epidemic of severe acute respiratory syndrome (SARS) in 2003, PCR not only of ...

One of the most important attributes of the polymerase chain reaction (PCR) is its exquisite sensitivity. However, the high sensitivity of PCR also renders it prone to falsepositive results because of, for example, exogenous contamination. Good laboratory practice and specific anti- ...

Monitoring polymerase chain reaction (PCR) once each cycle is a powerful method to detect and quantify the presence of nucleic acid sequences and has become known as & quote;real-time& quote; PCR. Absolute quantification of initial template copy number can be obtained, although quantifi ...

DNA methylation can be analyzed easily by qualitative or quantitative polymerase chain reaction (PCR)-based methods, including methylation-specific PCR (MSP), bisulfite sequencing, methylation-sensitive restriction enzyme PCR, combined bisulfite restriction an ...

Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) gives extremely precise reading of mass-to-charge ratios (two analytes differ by 1 Da can be distinguished) and provides high sensitivity (less than 1 fmole of a DNA oligonucleotide can ...

With the advent of real-time polymerase chain reaction (PCR), it is now possible to measure nucleic acid concentrations with an accuracy that was not possible only a few years ago. Examples are the analysis of gene expression or gene duplications/losses, where twofold differences in nucleic a ...

Denaturing high-performance liquid chromatography (DHPLC) analysis is an ionpair reversed-phase high performance liquid chromatography for performing analytical separations of DNA based on temperature: analysis is performed at a temperature sufficient to partially d ...

Prenatal diagnosis has become a standard part of obstetrics care. Genetic diagnoses are established prenatally through the sampling of fetal genetic material by invasive methods such as amniocentesis or chorionic villus sampling, which are associated with a risk of fetal loss. Hence, t ...

The word “chromosome” was introduced over a century ago from the Greek language meaning “colored body.” While cytogenetics refers to the study of chromosomes, the term molecular cytogenetics is used to describe the analysis of genomic alterations using mainly in situ hybridization based ...

Fluorescence in situ hybridization (FISH) requires nucleic acid probes, including deoxyribonucleic acid (DNA), ribonucleic acid (RNA), or nucleic acid analogs, labeled directly with fluorophores, or capable of indirect association with fluorophores. The nucleic acid provi ...

Ribonucleic acids (RNA) can be detected in cellular specimens by fluorescence in situ hybridization (FISH) using labeled RNA, deoxyribonucleic acid (DNA), or nucleic acids analogs. The RNA targets are often messenger RNA (mRNA) molecules that have been transcribed from the genomic DNA. S ...

Fluorescence in situ hybridization (FISH) technology permits the detection of specific nucleic acid sequences in morphologically preserved chromosomes, cells, and tissue. The unambiguous detection of structural or copy number changes of whole chromosomes or chromosome spe ...

In the early 1970s, a number of chromosome banding techniques were developed which produced reproducible transverse bands of different lengths along human chromosomes. These techniques included Q-banding, a fluorescent banding technique discovered by Caspersson in 1969; G-ba ...

Various genetic abnormalities can be observed in many human diseases. They vary from numerical chromosomal aberrations, deletions, and amplification of specific regions to chromosomal translocations and insertions. In the past decade, numerous fluorescence in situ hybridi ...

The standard investigation for suspected chromosomal rearrangements in patients is cytogenetic analysis at a 400–550 band resolution, yet this cannot routinely detect rearrangements smaller than 5 Megabases (Mb), and much larger abnormalities escape notice if they occur in regi ...

Mental retardation (MR), defined as an intelligence quotient (IQ) less than 70, represents the most frequent serious handicap in children and young adults. Moderate to severe MR (IQ

Comparative genomic hybridization (CGH) to metaphase chromosome targets (1,2) has significantly contributed to our understanding of the cancer cytogenetics of more complex malignancies such as solid tumors (3,4). This molecular cytogenetics-based technique (hereafter r ...

It has been known for decades that chromosome rearrangements exist in most if not all human tumors (1) and certain human hereditary diseases (2). Distinct chromosomal abnormalities in tumors lead to the activation of proto oncogene products, creation of tumor specific fusion proteins, or i ...

Prins (Primed in situ labeling) produces the same type of result as FISH; namely a hybridization dependant staining of specific DNA sequences in cell and tissue preparations. However, the staining is obtained differently, as the probe used in PRINS is unlabeled and staining results from the sy ...

Historically in clinical cytogenetics, G-banding has been the gold standard for detecting gross chromosomal abnormalities, ranging from simple numerical changes to the identification of complex structural rearrangements in clinical samples. The designation “marker chr ...