15 research outputs found
(The) usefulness of the microsatellite markers in the fibrillin-1 gene for diagnosis of familial marfan syndrome
λΆμμν νλκ³Όμ /μμ¬[νκΈ]
MarFan μ€νκ΅°μ κ³¨κ²©κ³ μ΄μ, μ¬νκ΄κ³ μ΄μ, μꡬ μ΄μ λ±μ νΉμ§μ κ°μ§κ³ μλλΉκ΅μ νν μ μ μ± μ§νμΌλ‘μ, μΌμ체 15λ² μ₯μ 21.1μ μμΉνλ fibrillin-1 μ μ μ(FBNI)μ λμ°λ³μ΄μ μνμ¬ λ°μνλ κ²μΌλ‘ μλ €μ Έ μμΌλ μ μ μ λ³μ΄λΆμμ λ€μμ±μΌλ‘ μΈν΄ μ§μ μ μΈ μ μ μ μ§λ¨μ νμ€μ μΌλ‘ μ΄λ €μ΄ μ€μ μ΄λ€. λ³Έ μ°κ΅¬μμλ Marfan μ¦νκ΅°μΌλ‘ μ§λ¨λ νμμ κ°μ‘± ꡬμ±μμμ μ μ μ λ€νμ±μ μ΄μ©νμ¬ λ¬΄μ¦μ 보μΈμμμ μ‘°κΈ° μ§λ¨μ μ μ©μ±μ μμλ³΄κ³ μ νμλ€.
νμ°κ΄κ³κ° μλ μ μ λμ‘°κ΅° 92λͺ
μμ FBNI μ μ μ λ΄μ μμΉνλ mts-1, mts-2, rots-3, mts-4μ λ립μΈμ λΉλμ polymorphism information content(PIC) κ°μ μ‘°μ¬νμ¬ μκΈ° μ μ μ λ€νμ±λ€μ μ μ©μ±μ νκ°νμμΌλ©°, κ°μ‘±μ± Marfan μ¦νκ΅°μ κ°μ§ 4 κ°μ‘±μ λμμΌλ‘ μκΈ° μ μ μ λ€νμ±μ haplotype λΆμμ μννμ¬ μ μ μ λ€νμ±μ μ μ©μ±μ κ²μ¦νμλ€. κ° FBNIμ μ μ λ€νμ±μ λ립μ μ μ μλ mts-1μμ 9κ°μ§, mts-2μμ 12κ°μ§, mts-3μμ 3κ°μ§, mts-4μμ 9κ°μ§λ‘ λ€μνμκ³ , mts-1, mts-2, mts-3, mts-4μ PIC κ°μ κ°κ° 0.720, 0.786, 0.383, 0.614μΌλ‘ μ΄ μ€ mts-3μ μ μΈν μ μ μ λ€νμ±μ λΉκ΅μ λμ PIC κ°μ κ°μ§κ³ μμλ€. λν, μ΄λ₯Ό μ΄μ©ν haplotype λΆμμΌλ‘ κ°μ‘±μ± Marfan μ¦νκ΅° 4 κ°μ‘±μμ λμ°λ³μ΄κ° μλ FBNI μ μ μμ μ μ μ¬λΆλ₯Ό νμΈν μ μμλ€.
λ³Έ μ°κ΅¬κ²°κ³Όλ‘ νκ΅μΈμμ FBNI μ μ μ λ€νμ±μ μ΄μ©ν haplotype λΆμμ κ°μ‘±μ± Marfan μ¦νκ΅°μ μ μ μ μ§λ¨ λ° λ¬΄μ¦μ 보μΈμλ₯Ό μ‘°κΈ° μ§λ¨νλλ° λ§€μ° μ μ©νκ² μ΄μ©λ μ μμ κ²μ΄λ€.
[μλ¬Έ]
Marfan syndrome, one of the most common genetic disorders of connective tissue, is characterized by skeletal, cardiovascular and ocular abnormalities. The Marfan syndrome is known to be due to mutation in the fibrillin-1 gene(FBNI) located on chromosome 15q21.1. Direct genetic diagnosis of the mutation is not easily
available because the FBNI is a large gene and most of the mutations identified to data are various. Presymptomatic diagnosis using the microsatellite markers can be used to determine whether Marfan syndrome is caused by the mutation FBNI gene and which family member is affected by the Marfan syndrome.
To evaluate the usefulness of the microsatellite markers, we examined the allele frequencies and polymorphism information content(PIC) values of each microsatellite markers(mts-1, mts-2, mts-3, mts-4) in 92 unrelated and unaffected control subjects. The genetic polymorphic haplotype in 4 Marfan syndrome families with familial Marfan syndrome was also determined
The number of distinct alleles for each microsatellite marker ranged from 3(mts-3) to 12(mts-2), and the PIC values of mts-1, mts-2, mts-3, mts-4 were 0.720, 0.786, 0.383, 0.614 respectively. The PIC values of others except mts-3 revealed high values. The microsatellite markers allowed identification of the affected
allele of FBNI in the 4 families tested.
It is concluded that the haplotype analysis using the microsatellite markers in the Korean population was useful for presymptomatic diagnosis in familial Marfan syndrome.prohibitio