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Journals / Uluslararası Hematoloji-Onkoloji Dergisi / 2012 / Cilt: 22 - Sayı: 2

SPTB Gen defekti olan dört kuşaklı herediter sferositozlu bir ailede bağlantı analizi

Linkage analysis of hereditary spherocytosis in four generations of a family with SPTB gene deficiency

Pelin TAŞDEMİR
S. Sennur DEMIREL
Pages
85–93
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Linkage analysis is an effective prescreening method in genetically heterogeneous diseases and a new mutation analysis study is in the planning stage to detect the mutation in the SPTB gene.

📌 3 Key Takeaways

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Objective & Hypothesis:Hereditary Spherocytosis (HS) is an inherited hemolytic anemia caused by the defects on membrane proteins and characterized by icterus, anemia and splenomegaly.
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Key Findings & Data:In about 75% of the cases, the inheritance follows an autosomal dominant pattern and about 25% of cases occur sporadically.
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Conclusion & Impact:Linkage analysis is an effective prescreening method in genetically heterogeneous diseases and a new mutation analysis study is in the planning stage to detect the mutation in the SPTB gene.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Hereditary Spherocytosis (HS) is an inherited hemolytic anemia caused by the defects on membrane proteins and characterized by icterus, anemia and splenomegaly. Hereditary Spherocytosis clinically and genetically comprises a heterogeneous group of hemolytic anemias. In about 75% of the cases, the inheritance follows an autosomal dominant pattern and about 25% of cases occur sporadically. The aim of this study was to find which gene was responsible for the autosomal dominant HS in a large family of four generations. The linkage to the major HS genes (including SPTA1, SPTB, ANK1 ve SLC4A1) was searched by using LINKAGE and MERLIN analysis and LOD-score statistical calculations. As a result of using these analyses, we confirmed that the HS in this family was an autosomal dominant form of the disease and the incidence was linked to the SPTB gene which maps to chromosome 14. Linkage analysis is an effective prescreening method in genetically heterogeneous diseases and a new mutation analysis study is in the planning stage to detect the mutation in the SPTB gene.

Özet

Herediter sferositoz (HS), membran proteinlerinin defektleri nedeniyle oluşan; anemi, sarılık ve splenomegali ile karakterize herediter bir hastalıktır. HS, klinik ve genetik olarak hem dominant hem de resesif kalıtımla ilişkili heterojen bir hastalıktır. Olguların % 75’i otozomal dominanttır, % 25 olguda ise bir aile hikayesi yoktur. Bu çalışmanın amacı dört kuşaklı geniş bir ailede rastlanan otozomal dominant geçişli Herediter sferositoz’da hangi gendeki mutasyonun patolojiden sorumlu olduğunu bulmaktır. Herediter sferositoz’da majör etkili olan SPTA1, SPTB, ANK1 ve SLC4A1 genlerine bağlantının varlığı; bağlantı (LINKAGE) ve MERLIN analizi ayrıca LOD skor istatistiksel hesaplamaları kullanılarak araştırılmıştır. Sonuç olarak; bu analizlerin kullanımı ile araştırdığımız ailede görülen Herediter Sferositoz’un otozomal dominant olarak kalıtıldığı ve 14 numaralı kromozomda yerleşik olan SPTB geninin hastalıktan sorumlu olacağı bulunmuştur. Genetik heterojenite gözlenen hastalıklarda bağlantı analizi, etkin bir ön tarama yoludur ve bağlantı gözlenen SPTB geninde mutasyon taraması yapılabilmesi için yeni bir çalışma planlanacaktır.

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Cite This Article

TAŞDEMİR, P., DEMIREL, S. S. (2012). SPTB Gen defekti olan dört kuşaklı herediter sferositozlu bir ailede bağlantı analizi. Uluslararası Hematoloji-Onkoloji Dergisi, Cilt: 22 - Sayı: 2, 85–93. https://ajindex.com/articles/323187

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