The isolation of undegraded RNA, free from inhibitors of reverse transcription-polymerase chain reaction (RT-PCR), is a major technical challenge in the analysis of gene expression in the skeleton. Bone is a mineralized tissue containing an abundant matrix, which makes RNA isolation d ...

As bone’s primary function is mechanical, it is not surprising that almost all studies using intact bone concern its morphology. Such histomorphometric studies have been used to provide insights into how bone responds, as an organ, to mechanical loading. However, despite the fact that the cel ...

The relationship between mechanical loading and bone formation has long been documented (1). However, the identity of the transductory mechanism, conveying loading signals to bone cells, remains elusive. Mechanical strain, interstitial fluid flow, and streaming potentials are a ...

The primary function of bone is to form the skeleton, which provides support for the body and protection for vital organs. These are primarily mechanical functions. To fulfil these, the bone matrix has to have the right combination of stiffness and strength to enable it to withstand the forces impos ...

Estrogen is known to be one of the major hormonal influences in bone remodeling and bone mass. Estrogen deficiency after the menopause is one of the leading causes of osteoporosis, and currently estrogen replacement is the first line management for postmenopausal osteoporosis. The bone lo ...

Generalized osteoporosis and an increased risk of fracture are commonly observed in chronic inflammatory diseases such as rheumatoid arthritis, ankylosing spondylitis, and inflammatory bowel disease (1–4). Current evidence suggests that the osteoporosis developed duri ...

There are several assays available to study the effects of cytokines, drugs, and hormones on bone cells in vitro. However, as the complex interactions between cells are disrupted, these in vitro assays do not always reflect what happens in vivo. The calvarial injection method, originally desc ...

Histomorphometric examination of bone biopsies provides information on bone turnover, remodeling, and structure, which cannot be obtained from other investigative approaches such as bone densitometry and biochemical markers of bone turnover. Recently, there have been sign ...

The inherited disorders of hemoglobin synthesis constitute themost commonmonogenic diseases worldwide. The clinical severity of β-thalassemia major and the sickle cell syndromes targets themas priority genetic diseases for prevention programs,which incorpo- rates po ...

Tay-Sachs disease is an autosomal recessive storage disease caused by the impaired activity of the lysosomal enzyme hexosaminidase A. In this fatal disease, the sphingolipid GM2 ganglioside accumulates in the neurons. Due to high carrier rates and the severity of the disease, population ...

Arrayed primer extension reaction (APEX) is a straightforward and robust enzymatic genotyping method in which hundreds to thousands of variations in the genome are simultaneously analyzed in a single multiplexed reaction. It differs from allele-specific hybridization in that t ...

The electronic microchip is a recently developed technology for the fast and reliable detection of known single-nucleotide polymorphisms (SNPs) in the genome. The DNA fragment to be analyzed is directed electrophoretically into the chip, and then it is hybridized with fluorescent-t ...

The method of spectral karyotyping (SKY) is based on a combination of the technologies of charge-coupled device imaging and spectrometry. The engineering feasibility has been realized in the SpectraCube system from Applied Spectral Imaging Inc., and it allows the simultaneous ident ...

Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and they are generally equal in size or smaller than a chromosome 20 of the same metaphase s ...

The most common aneuploidies in prenatal diagnostics of the second trimenon are trisomies of chromosomes 13, 18, and 21 and gonosomal abnormalities. To detect these trisomies as quickly as possible after amniocentesis, besides using polymerase chain reaction, fluorescence in situ h ...

Since its discovery by Koch in 1989, primed in situ labeling (PRINS) reaction provides an alternative approach for direct detection of human chromosomes. The multiple color (multi)-PRINS technique can simultaneously and specifically display different chromosomes with differ ...

Microarray-based comparative genomic hybridization (array CGH) is a fast and high-resolution approach to the diagnosis of a large number of genetic syndromes associated with loss or gain of the human genome. This technology has proven to be useful in several clinical settings, including ...

Autosomal chromosome aneuploid pregnancies that survive to term, namely, trisomies 13, 18, and 21, account for 89% of chromosome abnormalities with a severe phenotype. They are normally detected by full karyotype analysis of cultured cells. The average reporting time for a prenatal karyo ...

Multiplex ligation-dependent probe amplification (MLPA) is a new method to determine the copy number of up to 45 genomic DNA sequences in a single multiplex polymerase chain reaction (PCR)-based reaction. In contrast to standard multiplex PCR, only one pair of PCR primers is used. MLPA reacti ...

In prenatal analysis, one of the major concerns is the detection of fetal aneuploidies. Several molecular methods have been described recently for the rapid analysis of amniotic fluid and chorionic villi. Fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) of ...