Utility of Adoption a Molecular Method for Diagnosis of Short Limb
Molecular diagnostics: Molecular diagnostics is a set of techniques used to examine biological markers in the genome and proteome by applying molecular biology to medical testing-the genetic code of the organism and how their cells express their genes as proteins
Achondroplasia is a form of short limb dwarfism that has captured man's imagination since ancient times. It is the most common skeletal dysplasia in humans which caused by defect in cartilage-derived bone. The prevalence is estimated to be 1 in 12,000, and it is usually recognized at birth
Molecular diagnosis: DNA was extracted from peripheral leukocytes. PCR was performed on the extracted DNA using both outer and inner primers according to the following protocol: an initial denaturation step at 94°C for 5 min, followed by 33 cycles of 25 s at 94°C, 35 s at 65°C, 25 s at 72°C, and a final extension step of 10 min at 72°C. These steps were automated on the Invitrogen Platinum PCR supermix
DNA was done firstly using the RFLP for nt. 380 of FGFR3 for all probands and parents. The G380R mutation was positive in all 8 probands (100%) and negative in all parents (0%). Results of RFLP were confirmed using sequencing that revealed substitution of guanine by adenine.
Skeletal radiographs can be used to confirm the diagnosis in cases with achondroplasia with specific age-related criteria. Skeletal survey was carried out for all of our studied cases to explore the characteristic radiological features of achondroplasia. Lateral view of skull X-ray revealed midface hypoplasia, frontal bossing, large with relative small skull base and narrow foramen magnum. Anteroposterior view of the spine revealed caudal narrowing of the interpediculate distance in all cases. Lateral view of the spine revealed shortening of the pedicles with significant posterior scalloping that becomes more apparent with age while Anterior vertebral wedging becomes less evident.
Although clinical manifestations and radiological investigations are crucial for the diagnosis of achondroplasia, definitive diagnosis and prenatal diagnosis in high risk pregnancies are carried by molecular analysis. Ultrasonographic examination can detect shortening of long bones in heterozygote achondroplasia cases but the shortening of long bones become appreciable only in late pregnancy (third trimester).
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