Neurofilament heavy chain gene polymorphism and risk of multiple sclerosis

Multiple sclerosis (MS) is a chronic disease characterized by degeneration of the central nervous system (CNS). High levels of Neurofilament heavy chain (NEFH) in cerebrospinal fluid (CSF) is associated with MS. 40 MS patients and 40 controls genotyped by polymerase chain reaction (PCR) and Sanger sequencing. Genotypic and allelic distributions were compared between cases and controls. Fisher test was used to estimate the risk of MS associated with genotypes. We showed that NEFH, 1084-244G>A gene polymorphism, has no significant association with the susceptibility or severity of MS in Iranian patients (P = 0.737). Further prospective studies are required for confirmation.

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Detection of Clonal Immunoglobulin Heavy Chain Gene Rearrangements by Polymerase Chain Reaction in Scrapings from Archival Hematoxylin and Eosin-Stained Histologic Sections

Diagnostic Molecular Pathology ◽

10.1097/00019606-199300020-00027 ◽

1993 ◽

Vol 2 (1) ◽

pp. 168-176

Author(s):

Sanya Sukpanichnant ◽

Cindy L. Vnencak-Jones ◽

Thomas L. McCurley

Keyword(s):

Polymerase Chain Reaction ◽

Heavy Chain ◽

Immunoglobulin Heavy Chain ◽

Chain Gene ◽

Gene Rearrangements ◽

Heavy Chain Gene ◽

Immunoglobulin Heavy Chain Gene ◽

Chain Reaction ◽

Hematoxylin And Eosin ◽

Polymerase Chain

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Can Polymerase Chain Reaction Help Distinguish Benign From Malignant Lymphoid Aggregates in Bone Marrow Aspirates?

Archives of Pathology & Laboratory Medicine ◽

10.5858/2000-124-0511-cpcrhd ◽

2000 ◽

Vol 124 (4) ◽

pp. 511-515

Author(s):

Jonathan Ben-Ezra ◽

Kirk Hazelgrove ◽

Andrea Ferreira-Gonzalez ◽

Carleton T. Garrett

Keyword(s):

Bone Marrow ◽

Polymerase Chain Reaction ◽

Heavy Chain ◽

Immunoglobulin Heavy Chain ◽

Chain Gene ◽

Heavy Chain Gene ◽

Immunoglobulin Heavy Chain Gene ◽

Chain Reaction ◽

Polymerase Chain ◽

Lymphoid Aggregates

Abstract Objective.—Although morphologic and immunologic clues are helpful in distinguishing benign from malignant lymphoid aggregates in bone marrow biopsies, there remain some cases in which it is not possible to arrive at a definitive diagnosis. Since the malignant aggregates are monoclonal B-cell proliferations, we sought to determine whether performing polymerase chain reaction for the immunoglobulin heavy-chain locus would be helpful in distinguishing these 2 entities. Methods and Results.—Scrapings from unstained bone marrow aspirate smears or touch preparations of bone marrow biopsies from 15 patients with benign bone marrow lymphoid aggregates and 18 patients with malignant lymphoid infiltrates were analyzed for rearrangements of the FR3 region of the immunoglobulin heavy-chain gene locus by a heminested polymerase chain reaction procedure. All specimens had amplifiable DNA, as shown by amplification of the ras proto-oncogene. None of the 15 cases of benign bone marrow lymphoid aggregates demonstrated clonality upon amplification of the immunoglobulin heavy-chain gene locus. In contrast, 8 of the 18 malignant samples were positive (P = .01 by χ2 test; sensitivity, 44%; specificity, 100%; positive predictive value, 100%; negative predictive value, 60%). There was a tendency for there to be more lymphocytes in stained bone marrow aspirate smears from the cases of malignant lymphoid aggregates with a positive polymerase chain reaction result than in those without demonstrable clonality (36.0 ± 35.4% vs 9.8 ± 8.0%, P = .13). Conclusions.—Polymerase chain reaction for the immunoglobulin heavy-chain gene locus may help distinguish benign from malignant bone marrow lymphoid aggregates. Although the presence of false-negative samples may be related to the relative lack of lymphocytes in the bone marrow aspirates, other factors, such as the lack of amplification of the FR3 region of the immunoglobulin heavy-chain gene locus in particular tumors, cannot be ruled out with certainty.

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