Tetranucleotide repeat polymorphism at the human tyrosine hydroxylase gene (TH)

Mihael H. Polymeropoulos(St. Elizabeths Hospital), Hong Xiao(National Institute of Mental Health), D.S. Rath(National Institute of Mental Health), Carl R. Merril(St. Elizabeths Hospital)
Nucleic Acids Research
January 1, 1991
Cited by 264Open Access
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Abstract

The polymorphic (TCAT)n repeat begins at base pair 1170 in intron 1 of the human tyrosine hydroxylase gene on chromosome I lpl5.5-pl5 (1). The polymorphism can be typed using the polymerase chain reaction (PCR) as described previously (2). The predicted length of the amplified sequence was 254 bp. Primer Sequences: CAGCTGCCCTAGTCAGCAC (TCAT strand); GCTTCCGAGTGCAGGTCACA (AGTA strand). Frequency: Estimated from 70 chromosomes of unrelated individuals. Heterozygosity index = 78%. PIC = 0.75. Allele (bp) Frequency KI 260 0.21 K2 256 0.26 K3 252 0.13 K4 248 0.14 KS 244 0.26 Mendelian Inheritance: Co-dominant segregation was observed in two informative families.


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