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An AvaII Restriction Fragment Length Polymorphism in the Insulin-like Growth Factor II Gene and the Occurrence of Smooth Muscle Tumors¹

Laboratory for Physiological Chemistry, Utrecht University, Vondellaan 24A, NL-3521 GG Utrecht [T. G., I P., J. S. S.], and Departments of Pathology [L. T. M. V. D. V., W. D. O.] and Internal Medicine [C. J. M. L.], University Hospital Utrecht, NL-3508 GA Utrecht, The Netherlands

² To whom requests for reprints should be addressed.

To detect a previously described Avail restriction fragment length polymorphism (RFLP) in the human insulin-like growth factor II (IGF-II) gene we used the polymerase chain reaction (PCR) and genomic sequencing. The RFLP is located in exon 9 of the IGF-II gene at nucleotide 820 (GenBank accession number X07868) as a CT transition. Digestion with AvaII reveals a two-allele polymorphism, an a allele in which the AvaII site is not present, and a b allele.

In healthy Dutch persons (n = 26), the frequency of the a allele was 62%. A similar a allele frequency was found in groups of Japanese (53%, n = 65) and Chinese (54%, n = 84), while in a French group the frequency was significantly lower (25%, n = 52). In Dutch individuals that had developed benign (n = 11; all women) and malignant (n = 9; 2 women and 7 men) smooth muscle tumors, a significantly higher frequency of 83% for the a allele was found. Since there was no difference between the presence of the a and b alleles in normal and tumor tissue of the same individual, the higher a allele frequency was not due to mutation in the IGF-II gene or loss of heterozygosity. There was no correlation between the presence of the a allele and expression of the IGF-II gene.

The data reveal a correlation between homozygosity for the a allele and the occurrence of smooth muscle tumors. Women homozygous for the IGF-II a allele are more prone to develop a leiomyoma than women who are heterozygous or homozygous for the b allele. Furthermore, in both women and men the risk for leiomyosarcomas seems to be higher in a allele homozygotes.

¹ This research was supported by Grants UUKC 88-04 and RUU 93-487 from the Netherlands Cancer Foundation (Nederlandse Kankerbestrijding).

The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked advertisement in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

Received 6/22/93. Accepted 9/28/93.

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