Marles S L, McAlpine P J, Zelinski T, Phillips S, Maeda N, Greenberg C R
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Hum Genet. 1993 Oct;92(4):364-6. doi: 10.1007/BF01247336.
The inherited variations in haptoglobin phenotypes are attributed to the homozygous and heterozygous combinations of three common autosomal alleles: HP1F, HP1S and HP2. HP1F and HP1S encode polypeptides that differ by two amino acids at positions 51 and 53. The formation of HP2 is postulated to have resulted from a breakage and subsequent reunion event at non-homologous positions of two HP1 alleles. The most common form of HP2 is HP2FS in which the 5' end of HP2 resembles HP1F and the 3' end resembles HP1S. Homologous crossing over between HP2 and either an HP1F or HP1S allele in HP2/HP1 heterozygotes can change the usual type of HP2 to three other forms: HP2SS, HP2FF or HP2SF. We describe a nuclear family in which the uncommon genotype HP2SS is one parent caused initial confusion in assigning genotypes to the rest of the nuclear family. The data demonstrate the need for a cautious approach when deducing haptoglobin genotypes from molecular analysis alone.
HP1F、HP1S和HP2。HP1F和HP1S编码的多肽在第51位和第53位氨基酸处有两个不同。据推测，HP2的形成是由于两个HP1等位基因在非同源位置发生断裂并随后重新结合所致。HP2最常见的形式是HP2FS，其中HP2的5'端类似于HP1F，3'端类似于HP1S。在HP2/HP1杂合子中，HP2与HP1F或HP1S等位基因之间的同源交叉可将通常类型的HP2改变为其他三种形式：HP2SS、HP2FF或HP2SF。我们描述了一个核心家庭，其中罕见的基因型HP2SS是一位家长的，这最初给为核心家庭其他成员确定基因型带来了困惑。数据表明，仅从分子分析推断触珠蛋白基因型时需要谨慎。
