Murray A, Webb J, Grimley S, Conway G, Jacobs P
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
J Med Genet. 1998 Aug;35(8):637-40. doi: 10.1136/jmg.35.8.637.
Recent reports suggest that women with FRAXA premutations have an increased likelihood of having premature ovarian failure (POF). We screened 147 women with idiopathic POF for the number of trinucleotide repeats at the FRAXA and FRAXE loci. We found six women with FRAXA premutations, including four familial and two sporadic cases, but no women with FRAXA full mutations. At the FRAXE locus there were no pre- or full mutations but there was an excess of small alleles with fewer than 11 repeats, including at least one small deletion at or near the triplet. The association of FRAXA premutations with POF confirms that premutation alleles can affect ovarian development or function or both.
最近的报告表明，携带脆性X智力低下基因A（FRAXA）前突变的女性发生卵巢早衰（POF）的可能性增加。我们对147例特发性卵巢早衰女性进行了FRAXA和FRAXE基因座三核苷酸重复数目的筛查。我们发现6例携带FRAXA前突变的女性，包括4例家族性和2例散发性病例，但未发现携带FRAXA完全突变的女性。在FRAXE基因座，未发现前突变或完全突变，但存在超过预期数量的重复数少于11次的小等位基因，包括三联体处或其附近至少一个小缺失。FRAXA前突变与卵巢早衰的关联证实，前突变等位基因可影响卵巢发育或功能或两者。
