Human α-L-iduronidase (IDUA) gene: Apparent recombination in intron 2 by haplotype analysis in a Taiwanese population

Journal of the Formosan Medical Association

Volumn 97, Issue 7, 1998, Pages 465-470

  Lee Chen, Guey Jen ^a   Wang, Tso Ren ^b   Hwu, Wuh Liang ^b   Day, Kuen Rong ^a   Wang, Cheng Kuang ^a  

^a NATIONAL TAIWAN NORMAL UNIVERSITY   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

L iduronidase polymorphism; Haplotype; Linkage disequilibrium

Indexed keywords

LEVO IDURONIDASE;

ADULT; ARTICLE; CONTROLLED STUDY; ENZYME POLYMORPHISM; GENE ISOLATION; GENE LINKAGE DISEQUILIBRIUM; HUMAN; INTRON; NORMAL HUMAN; TAIWAN; VARIABLE NUMBER OF TANDEM REPEAT;

ADULT; GENETICS, POPULATION; HAPLOTYPES; HUMANS; IDURONIDASE; INTRONS; LINKAGE DISEQUILIBRIUM; MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, GENETIC; TAIWAN;

EID: 0031847321     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Neufeld EF. Muenzer J: The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic Basis of Inherited Diseases. 6th ed. New York: McGraw-Hill, 1989:1565-87.
2. Scott HS, Guo XH, Hopwood JJ, et al: Structure and sequence of the human α-L-iduronidase gene. Genomics 1992;13:1311-3.
3. Scott HS, Anson DS, Orsborn AM, et al: Human α-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci USA 1991;88:9695-9.
4. Scott HS, Bunge S, Gal A, et al: Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. Hum Mutat 1995;6:288-302.
5. Lee-Chen GJ, Wang TR: Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/ Scheie syndrome in Chinese families. J Med Genet 1997; 34:939-41.
6. Scott HS, Nelson PV, Hopwood JJ, et al: PCR of a KpnI RFLP in the α-L-iduronidase (IDUA) gene. Nucleic Acids Res 1991;19:5796.
7. Scott HS, Litjens T, Hopwood JJ, et al: PCR detection of two RFLPs in exon I of the α-L-iduronidase (IDUA) gene. Hum Genet 1992;90:327.
8. Scott HS, Nelson PV, Litjens T, et al: Multiple polymorphisms within the α-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype. Hum Mol Genet 1993;2:1471-3.
9. Bunge S, Kleijer WJ, Steglich C. et al: Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 1994;3:861-6.
10. Scott HS, Nelson PV, MacDonald ME, et al: An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics 1992;14:1118-20.
11. Scott HS, Nelson PV, Hopwood JJ, et al: PCR of a VNTR linked to mucopolysaccharidosis type I and Huntington disease. Nucleic Acids Res 1991;19:6348.
12. Wainscoat JS, Bell JI, Thein SL, et al: Multiple origins of the sickle mutation: evidence from the β8 globin gene cluster polymorphisms. Mol Biol Med 1983;1:191-7
13. Chakravarti A, Phillips III JA, Mcllits KH, et al: Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster. Proc Natl Acad Sci USA 1984;81:6085-9.
14. Ludwig EH, McCarthy BJ: Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am J Hum Genet 1990; 47:712-20.
15. Scott HS, Nelson PV, Cooper A, et al: Mucopolysaccharidosis type I (Hurler syndrome) : linkage disequilibrium indicates the presence of a major allele. Hum Genet 1992,88:701-2.
16. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning: A Laboratory Manual, 2nd ed. New York: Cold Spring Harbor. 1989:E3-5.
17. Levene H: On a matching problem in genetics. Ann Math Stat 1949;20:91-4.
18. Yeh FC, Boyle T: population genetic analysis of codominant and dominant markers and quantitative traits. Belgian J Botang 1997;129-157.
19. Hill WG: Estimation of linkage disequilibrium in randomly mating populations. Heredity 1974;33:229-39.
20. Hiroko P, Galton D, Stocks J: DNA polymorphic patterns and haplotype arrangements of apo A-I, apo C-III, apo A-IV gene cluster in different ethnic groups. Hum Genet 1987;75:264-8.
21. Thompson EA, Deeb S, Walker D, et al: The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 1988;42:113-24.
22. Leitersdorf E, Chakravarti A, Hobbs HH: Polymorphic DNA haplotypes at the LDL receptor locus. Am J Hum Genet 1989;44:409-21.
23. Chakravarti A, Buetow KH, Antonarakis SW, et al: Nonuniform recombination within the human β-globin gene cluster. Hum Genet 1984;36:1239-58.
24. Chakravarti A, Elbein SC, Permutt MA: Evidence for increased recombination near the human insulin gene: implication for disease association studies. Proc Natl Acad Sci USA 1986;83:1045-9.