{"product_id":"autosomal-recessive-inheritance-hp6070","title":"Autosomal recessive inheritance - HP6070","description":"\u003ch2\u003eWhy does my baby need more testing for severe combined immune deficiency (SCID)?\u003c\/h2\u003e\n\u003ch4\u003eWhen your baby was about 48 hours old, a blood sample was collected from your baby’s heel onto a blood spot (Guthrie) card. The blood was used to test for more than 20 rare metabolic disorders.\u003c\/h4\u003e\n\u003cp\u003eYour child has been shown to have:\u003c\/p\u003e\n\u003cp\u003eBy now you should have discussed this condition with your paediatrician or the National Metabolic Service. You should know what the diagnosis is and how it affects your child. You should also know that it is a genetic disorder that has been inherited from both mum and dad in an autosomal recessive way.\u003c\/p\u003e\n\u003cp\u003eThis information sheet helps to explain this genetic inheritance pattern.\u003c\/p\u003e\n\u003ch3\u003eWhat are genes?\u003c\/h3\u003e\n\u003cp\u003eWho we are, what we look like, and how we grow is determined by our DNA – the blueprint of life. The genetic material contained in our DNA is organised into thousands of individual units called genes, which are grouped together in units known as chromosomes that are found inside every cell in our bodies.\u003c\/p\u003e\n\u003cp\u003eThere are 46 different chromosomes (23 pairs); the sex chromosome (the pairing of X and X or X and Y) and 22 pairs of autosomes (any chromosome that isn’t a sex chromosome). One member of each pair of chromosomes has come from each parent.\u003c\/p\u003e\n\u003cp\u003eWe each carry more than 20,000 genes in every cell in our body. Each gene produces a different protein and these proteins make up how our cells and bodies function and they work together to maintain our health and wellbeing.\u003c\/p\u003e\n\u003ch3\u003eHow is a genetic disorder inherited?\u003c\/h3\u003e\n\u003cp\u003eWe inherit our genes from our parents. Many variations in our genes are passed from generation to generation. A variation in the genetic code, called a ‘mutation’, can cause a gene to be faulty and not work properly, resulting in an adverse effect or disease.\u003c\/p\u003e\n\u003cp\u003eAll of us are ‘carriers’ for mutations without knowing anything about them until our children, other family members or ourselves are affected by an inherited disorder.\u003cbr\u003e\u003c\/p\u003e\n\u003cp\u003eMost genetic disorders diagnosed through newborn screening are inherited in an autosomal recessive way.\u003c\/p\u003e\n\u003ch3\u003eHow does autosomal recessive inheritance work?\u003c\/h3\u003e\n\u003cp\u003eWhen a baby is conceived, each parent passes on a copy of each of his or her genes to them. Therefore, the baby is a ‘mixture’ of their parent’s genetic information.\u003c\/p\u003e\n\u003cp\u003eThere are four possible combinations of the genetic information that parents can pass on. You can see how that works in the diagram1 below. In the diagram, the autosomal recessive ‘faulty’ gene copy is represented by the letter ‘r’, and the normal gene copy is represented by the letter ‘R’.\u003c\/p\u003e\n\u003cp\u003e\u003cimg src=\"https:\/\/cdn.shopify.com\/s\/files\/1\/0102\/6916\/3582\/files\/HP6070_fig_1.png?v=1771387081\" alt=\"\"\u003e\u003c\/p\u003e\n\u003cp\u003eThe information for this diagram was sourced from the Centre for Genetics Education, New South Wales Government, Australia.\u003c\/p\u003e\n\u003cp\u003eAs the diagram above shows, in every pregnancy, there is:\u003c\/p\u003e\n\u003col\u003e\n\u003cli\u003ea 25% chance (1 out of 4 chance) that the baby will inherit a normal gene from both parents and will be unaffected by the metabolic disorder\u003c\/li\u003e\n\u003cli\u003ea 50% chance (1 out of 2 chance) that the baby will inherit a faulty copy of a gene from one parent and a normal copy of the same gene from the other parent. The baby will be clinically ‘normal’ or ‘unaffected’ and will not experience ametabolic disorder. However, they will be a ‘carrier’ for the disorder (just like their parents)\u003c\/li\u003e\n\u003cli\u003ea 25% chance (1 out of 4 chance) that the baby will inherit a faulty copy of a gene from both of their parents and will be ‘affected’ by or predisposed to develop ametabolic disorder, which interferes with chemical reactions that occur naturally in our bodies to help us live.\u003c\/li\u003e\n\u003c\/ol\u003e\n\u003ch3\u003eFurther information\u003c\/h3\u003e\n\u003cp\u003eGenetic Health Service New Zealand is New Zealand’s provider of expert genetic diagnosis and advice. Clinics operate throughout New Zealand with a staff of clinical geneticists and genetic associates. Genetic Health Service New Zealand is part of New Zealand’s public health system.\u003c\/p\u003e\n\u003cp\u003eGenetic Health Service New Zealand is divided into three regional services. You can find your nearest region at:\u003cbr\u003e\u003ca href=\"https:\/\/www.tewhatuora.govt.nz\/health-services-and-programmes\/genetic-health-service-nz\/about\"\u003eAbout Genetic Health Service NZ – Health New Zealand | Te Whatu Ora\u003c\/a\u003e\u003cbr\u003e\u003c\/p\u003e\n\u003cp\u003eYou can find more information about metabolic disorders at:\u003cbr\u003e\u003cbr\u003e\u003ca href=\"https:\/\/www.tewhatuora.govt.nz\/health-services-and-programmes\/screening\"\u003eScreening – Health New Zealand | Te Whatu Ora\u003c\/a\u003e\u003c\/p\u003e\n\u003cp\u003e\u003ca href=\"https:\/\/www.newbornscreening.info\/\"\u003enewbornscreening.info – Expanded Newborn Screening Using New Technologies, Financial, Ethical, Legal and Social Issues (FELSI)\u003c\/a\u003e\u003cbr\u003e\u003c\/p\u003e","brand":"HealthEd","offers":[{"title":"Default Title","offer_id":47920722018532,"sku":"HP6070","price":0.0,"currency_code":"NZD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0102\/6916\/3582\/files\/HP6070.png?v=1771386439","url":"https:\/\/healthed.govt.nz\/products\/autosomal-recessive-inheritance-hp6070","provider":"HealthEd","version":"1.0","type":"link"}