Danes B S, Bearn A G
J Exp Med. 1967 Sep 1;126(3):509-22. doi: 10.1084/jem.126.3.509.
Clones of skin fibroblasts from normal individuals, patients with different mucopolysaccharidoses, and certain of their relatives have been examined for cellular metachromasia and cellular uronic acid. All the clones derived from affected individuals and heterozygous carriers in families with the autosomal forms of Hurler's syndrome showed marked metachromasia and increased cellular uronic acid. Since only one cell population was demonstrated in clones derived from heterozygous carriers, no evidence for autosomal inactivation was obtained. Clones derived from affected individuals with the X-linked recessive form of Hurler's syndrome contained uniform populations of metachromatic staining cells which demonstrated increased cellular uronic acid. Clones derived from the noncarrier fathers showed no cellular metachromasia or increased cellular uronic acid. Clones derived from the heterozygous mothers and sisters showed two populations both qualitatively and quantitatively. On the average, 72% of these clones were metachromatic and demonstrated an increased uronic acid content; 28% of the clones showed no metachromasia and the uronic acid content was similar to that found in normal individuals. The appearance of two distinct cell populations in clones derived from females heterozygous for the X-linked recessive form of Hurler's syndrome provides evidence in favor of the Lyon hypothesis.
对来自正常个体、患有不同黏多糖贮积症的患者及其某些亲属的皮肤成纤维细胞克隆进行了细胞异染性和细胞糖醛酸检测。在常染色体形式的Hurler综合征家族中，所有来自受影响个体和杂合携带者的克隆均表现出明显的异染性和细胞糖醛酸增加。由于在来自杂合携带者的克隆中仅显示出一个细胞群体，因此未获得常染色体失活的证据。来自患有X连锁隐性形式Hurler综合征的受影响个体的克隆含有均匀的异染性染色细胞群体，其细胞糖醛酸增加。来自非携带者父亲的克隆未显示细胞异染性或细胞糖醛酸增加。来自杂合母亲和姐妹的克隆在定性和定量上均显示出两个群体。平均而言，这些克隆中有72%表现出异染性，且糖醛酸含量增加；28%的克隆未显示异染性，其糖醛酸含量与正常个体相似。在患有X连锁隐性形式Hurler综合征的杂合女性的克隆中出现两种不同的细胞群体，为Lyon假说提供了证据。
