A Turkish family with 6.7 kb deletion associated with isolated growth hormone deficiency type 1A

KORKMAZ K. S., Sercan O., Yazicioglu M., Sakizli M., Darcan S., Buyukgebiz A.

TURKISH JOURNAL OF PEDIATRICS, cilt.39, sa.1, ss.99-104, 1997 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 1
  • Basım Tarihi: 1997
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.99-104
  • Anahtar Kelimeler: growth hormone deficiency, 6.7 kd deletion, Turkish family, GH GENE-CLUSTER
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Familiar growth hormone deficiency type 1A is an autosomal recessive disease caused by homogenous deletions of both alleles of growth hormone gene 1 (hGH1) in various patterns. The hGH1 gene deletion Is an event that probably occurs between the 5' and 3' flanking regions by unequal recombination, and results in deletion of the hGH1 gene in different patterns. Deletions are mostly 6.7 kb and rarely 7.0 kb, 7.6 kb and 45 kb In size. A four-year-old girl diagnosed with growth hormone deficiency syndrome was send to us for further evaluation. DNA samples of the patient, her parents and controls were amplified by polymerase chain reaction (PCR); furthermore, restriction endonuclease analysis was done with Sma I enzyme and the patterns were evaluated. Our gel electrophoresis results show that the gene deletion pattern of the patient represents a homogenous 6.7 kb deletion, while her parents had a heterogeneous 6.7 kb deletion pattern.